CleftGeneDB-Search

Gene: TCN2

Basic information

Tag	Content
Uniprot ID	P20062; Q96FD4; Q9BVI8; Q9UCI5; Q9UCI6; Q9UDM0;
Entrez ID	6948
Genbank protein ID	AAH01176.1; AAC05491.1; CAG30477.1; AAH11239.1; AAA61057.1; AAA61054.1; AAA61056.1;
Genbank nucleotide ID	NM_000355.3; NM_001184726.1;
Ensembl protein ID	ENSP00000215838; ENSP00000384914;
Ensembl nucleotide ID	ENSG00000185339
Gene name	Transcobalamin-2
Gene symbol	TCN2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	16470748
Functional description	Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
Sequence	MRHLGAFLFL LGVLGALTEM CEIPEMDSHL VEKLGQHLLP WMDRLSLEHL NPSIYVGLRL 60 SSLQAGTKED LYLHSLKLGY QQCLLGSAFS EDDGDCQGKP SMGQLALYLL ALRANCEFVR 120 GHKGDRLVSQ LKWFLEDEKR AIGHDHKGHP HTSYYQYGLG ILALCLHQKR VHDSVVDKLL 180 YAVEPFHQGH HSVDTAAMAG LAFTCLKRSN FNPGRRQRIT MAIRTVREEI LKAQTPEGHF 240 GNVYSTPLAL QFLMTSPMRG AELGTACLKA RVALLASLQD GAFQNALMIS QLLPVLNHKT 300 YIDLIFPDCL APRVMLEPAA ETIPQTQEII SVTLQVLSLL PPYRQSISVL AGSTVEDVLK 360 KAHELGGFTY ETQASLSGPY LTSVMGKAAG EREFWQLLRD PNTPLLQGIA DYRPKDGETI 420 ELRLVSW 427

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2BB5
4ZRP
4ZRQ
5NO0
5NP4
5NRP
5NSA
2BB5
4ZRP
4ZRQ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	TCN2	281518	Q9XSC9	Bos taurus	Prediction	More>>
1:1 ortholog	TCN2	486355	E2RFH1	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	TCN2	102190723	A0A452DSJ0	Capra hircus	Prediction	More>>
1:1 ortholog	TCN2	100063639	F6U5V3	Equus caballus	Prediction	More>>
1:1 ortholog	TCN2	6948	P20062	Homo sapiens	Publication	More>>
1:1 ortholog	Tcn2	21452	O88968	Mus musculus	Prediction	More>>
1:1 ortholog	TCN2	470178	H2QLH6	Pan troglodytes	Prediction	More>>
1:1 ortholog	TCN2	100152846	F1RPE4	Sus scrofa	Prediction	More>>
1:1 ortholog	Tcn2	64365	G3V6K1	Rattus norvegicus	Prediction	More>>
1:1 ortholog	tcn2	407646	F2Z4S3	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TCN2	rs1801198; c.667C>G (protective)	Genotyping	31663440
TCN2	c.776C>G; p.Pro259Arg	Genotyping; TDT	16470748

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs769044030	p.His3Tyr	missense variant	-	NC_000022.11:g.30607338C>T	ExAC,gnomAD
rs769044030	p.His3Asn	missense variant	-	NC_000022.11:g.30607338C>A	ExAC,gnomAD
rs144098088	p.Leu4His	missense variant	-	NC_000022.11:g.30607342T>A	ESP,ExAC,gnomAD
rs572942248	p.Leu4Phe	missense variant	-	NC_000022.11:g.30607341C>T	ExAC,TOPMed,gnomAD
rs572942248	p.Leu4Val	missense variant	-	NC_000022.11:g.30607341C>G	ExAC,TOPMed,gnomAD
rs144098088	p.Leu4Pro	missense variant	-	NC_000022.11:g.30607342T>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Leu4Ile	missense variant	-	NC_000022.11:g.30607341C>A	NCI-TCGA
RCV000756753	p.Leu4Phe	missense variant	-	NC_000022.11:g.30607341C>T	ClinVar
NCI-TCGA novel	p.Ala6Val	missense variant	-	NC_000022.11:g.30607348C>T	NCI-TCGA
rs761037241	p.Leu10Phe	missense variant	-	NC_000022.11:g.30607359C>T	ExAC,gnomAD
rs766272902	p.Gly12Trp	missense variant	-	NC_000022.11:g.30607365G>T	ExAC,gnomAD
rs1366455356	p.Gly15Arg	missense variant	-	NC_000022.11:g.30607374G>A	gnomAD
rs753691523	p.Gly15Glu	missense variant	-	NC_000022.11:g.30607375G>A	ExAC,gnomAD
rs1159884923	p.Ala16Thr	missense variant	-	NC_000022.11:g.30607377G>A	gnomAD
COSM1415734	p.Ala16GlyPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30607372_30607373insG	NCI-TCGA Cosmic
rs759462885	p.Leu17Val	missense variant	-	NC_000022.11:g.30607380C>G	ExAC,TOPMed,gnomAD
rs1455774524	p.Thr18Ile	missense variant	-	NC_000022.11:g.30607384C>T	gnomAD
rs1305133497	p.Glu19Gln	missense variant	-	NC_000022.11:g.30607386G>C	TOPMed
NCI-TCGA novel	p.Glu19Asp	missense variant	-	NC_000022.11:g.30607388G>C	NCI-TCGA
rs375476510	p.Met20Leu	missense variant	-	NC_000022.11:g.30607389A>T	ESP,ExAC,gnomAD
rs752210008	p.Met20Lys	missense variant	-	NC_000022.11:g.30607390T>A	ExAC,gnomAD
rs767065449	p.Glu22Val	missense variant	-	NC_000022.11:g.30610871A>T	ExAC,TOPMed,gnomAD
rs767065449	p.Glu22Gly	missense variant	-	NC_000022.11:g.30610871A>G	ExAC,TOPMed,gnomAD
rs1332646331	p.Glu22Lys	missense variant	-	NC_000022.11:g.30607395G>A	TOPMed,gnomAD
rs9606756	p.Ile23Val	missense variant	-	NC_000022.11:g.30610873A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000398328	p.Ile23Val	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610873A>G	ClinVar
RCV000559774	p.Pro24Ser	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610876C>T	ClinVar
rs755866662	p.Pro24Ala	missense variant	-	NC_000022.11:g.30610876C>G	ExAC,TOPMed,gnomAD
rs755866662	p.Pro24Ser	missense variant	-	NC_000022.11:g.30610876C>T	ExAC,TOPMed,gnomAD
rs1276617352	p.Pro24Arg	missense variant	-	NC_000022.11:g.30610877C>G	TOPMed
rs755866662	p.Pro24Thr	missense variant	-	NC_000022.11:g.30610876C>A	ExAC,TOPMed,gnomAD
rs758927111	p.Met26Arg	missense variant	-	NC_000022.11:g.30610883T>G	ExAC,gnomAD
COSM5074858	p.Met26Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30610884G>T	NCI-TCGA Cosmic
rs1465444723	p.Asp27Gly	missense variant	-	NC_000022.11:g.30610886A>G	gnomAD
rs778457875	p.His29Arg	missense variant	-	NC_000022.11:g.30610892A>G	ExAC
rs116605132	p.Leu30Gln	missense variant	-	NC_000022.11:g.30610895T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116605132	p.Leu30Arg	missense variant	-	NC_000022.11:g.30610895T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000635261	p.Leu30Arg	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610895T>G	ClinVar
rs1292825855	p.Leu34Ser	missense variant	-	NC_000022.11:g.30610907T>C	TOPMed
rs781389750	p.Gln36Arg	missense variant	-	NC_000022.11:g.30610913A>G	ExAC,gnomAD
rs1474415495	p.His37Gln	missense variant	-	NC_000022.11:g.30610917C>A	gnomAD
rs1356254021	p.His37Pro	missense variant	-	NC_000022.11:g.30610916A>C	TOPMed
rs1326813642	p.His37Tyr	missense variant	-	NC_000022.11:g.30610915C>T	gnomAD
NCI-TCGA novel	p.His37Gln	missense variant	-	NC_000022.11:g.30610917C>G	NCI-TCGA
NCI-TCGA novel	p.Leu38Phe	missense variant	-	NC_000022.11:g.30610918C>T	NCI-TCGA
COSM1415735	p.Trp41Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30610928G>T	NCI-TCGA Cosmic
COSM1415736	p.Trp41Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30610929G>A	NCI-TCGA Cosmic
COSM1327272	p.Met42Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30610931T>C	NCI-TCGA Cosmic
rs770055978	p.Arg44Gln	missense variant	-	NC_000022.11:g.30610937G>A	ExAC,TOPMed,gnomAD
rs374992877	p.Arg44Trp	missense variant	-	NC_000022.11:g.30610936C>T	ESP,ExAC,TOPMed,gnomAD
rs1201136556	p.Leu45Val	missense variant	-	NC_000022.11:g.30610939C>G	TOPMed
rs779652292	p.Ser46Cys	missense variant	-	NC_000022.11:g.30610943C>G	ExAC,gnomAD
rs200833932	p.Leu47Met	missense variant	-	NC_000022.11:g.30610945C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1191081994	p.His49Tyr	missense variant	-	NC_000022.11:g.30610951C>T	TOPMed
rs1303034662	p.His49Leu	missense variant	-	NC_000022.11:g.30610952A>T	TOPMed,gnomAD
rs774253239	p.Pro52Arg	missense variant	-	NC_000022.11:g.30610961C>G	ExAC,gnomAD
rs1555894597	p.Pro52Ser	missense variant	-	NC_000022.11:g.30610960C>T	-
RCV000546504	p.Pro52Ser	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610960C>T	ClinVar
rs761800308	p.Ser53Gly	missense variant	-	NC_000022.11:g.30610963A>G	ExAC,TOPMed,gnomAD
rs556464879	p.Ile54Phe	missense variant	-	NC_000022.11:g.30610966A>T	1000Genomes,ExAC,gnomAD
COSM4939535	p.Ile54Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30610966A>G	NCI-TCGA Cosmic
rs201701227	p.Tyr55Ser	missense variant	-	NC_000022.11:g.30610970A>C	ExAC,TOPMed,gnomAD
rs201701227	p.Tyr55Cys	missense variant	-	NC_000022.11:g.30610970A>G	ExAC,TOPMed,gnomAD
rs1230320964	p.Gly57Ser	missense variant	-	NC_000022.11:g.30610975G>A	gnomAD
rs752965806	p.Gly57Val	missense variant	-	NC_000022.11:g.30610976G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu58Pro	missense variant	-	NC_000022.11:g.30610979T>C	NCI-TCGA
rs757905563	p.Arg59Cys	missense variant	-	NC_000022.11:g.30610981C>T	ExAC,TOPMed,gnomAD
rs1036556308	p.Arg59His	missense variant	-	NC_000022.11:g.30610982G>A	gnomAD
RCV000556778	p.Arg59Cys	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30610981C>T	ClinVar
rs1036556308	p.Arg59Leu	missense variant	-	NC_000022.11:g.30610982G>T	gnomAD
rs145474456	p.Ser62Gly	missense variant	-	NC_000022.11:g.30610990A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750525855	p.Ser62Asn	missense variant	-	NC_000022.11:g.30610991G>A	ExAC,gnomAD
rs1037707287	p.Ala65Asp	missense variant	-	NC_000022.11:g.30611000C>A	TOPMed,gnomAD
rs1159823738	p.Ala65Thr	missense variant	-	NC_000022.11:g.30610999G>A	gnomAD
rs1176409369	p.Thr67Ile	missense variant	-	NC_000022.11:g.30611006C>T	TOPMed,gnomAD
rs1360531696	p.Glu69Gly	missense variant	-	NC_000022.11:g.30611012A>G	gnomAD
rs938845853	p.Asp70Val	missense variant	-	NC_000022.11:g.30611015A>T	gnomAD
rs748012975	p.Tyr72Cys	missense variant	-	NC_000022.11:g.30611021A>G	ExAC,TOPMed,gnomAD
rs557393479	p.His74Tyr	missense variant	-	NC_000022.11:g.30611026C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1281078267	p.His74Pro	missense variant	-	NC_000022.11:g.30611027A>C	gnomAD
rs557393479	p.His74Asp	missense variant	-	NC_000022.11:g.30611026C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs75680863	p.Lys77Met	missense variant	-	NC_000022.11:g.30611036A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs75680863	p.Lys77Arg	missense variant	-	NC_000022.11:g.30611036A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1210639626	p.Lys77Glu	missense variant	-	NC_000022.11:g.30611035A>G	gnomAD
RCV000351597	p.Lys77Met	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30611036A>T	ClinVar
rs1180349663	p.Leu78Phe	missense variant	-	NC_000022.11:g.30611038C>T	TOPMed,gnomAD
rs1180349663	p.Leu78Ile	missense variant	-	NC_000022.11:g.30611038C>A	TOPMed,gnomAD
rs764544701	p.Gly79Cys	missense variant	-	NC_000022.11:g.30611041G>T	ExAC,gnomAD
rs751973614	p.Gly79Asp	missense variant	-	NC_000022.11:g.30611042G>A	ExAC
rs768090763	p.Cys83Tyr	missense variant	-	NC_000022.11:g.30611054G>A	ExAC,TOPMed,gnomAD
rs756185555	p.Leu84Phe	missense variant	-	NC_000022.11:g.30611056C>T	ExAC,gnomAD
rs367867691	p.Leu85Val	missense variant	-	NC_000022.11:g.30611059C>G	ESP,ExAC,gnomAD
rs371944934	p.Gly86Glu	missense variant	-	NC_000022.11:g.30611063G>A	ESP,ExAC
rs780786251	p.Ser87Pro	missense variant	-	NC_000022.11:g.30612874T>C	ExAC,gnomAD
rs1317871405	p.Ala88Thr	missense variant	-	NC_000022.11:g.30612877G>A	gnomAD
rs35915865	p.Phe89Leu	missense variant	-	NC_000022.11:g.30612880T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000389989	p.Phe89Leu	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30612880T>C	ClinVar
rs559879608	p.Glu91Lys	missense variant	-	NC_000022.11:g.30612886G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs559879608	p.Glu91Ter	stop gained	-	NC_000022.11:g.30612886G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs528704555	p.Asp92Asn	missense variant	-	NC_000022.11:g.30612889G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1431134463	p.Asp93Gly	missense variant	-	NC_000022.11:g.30612893A>G	TOPMed
rs11557600	p.Gly94Arg	missense variant	-	NC_000022.11:g.30612895G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs11557600	p.Gly94Ser	missense variant	-	NC_000022.11:g.30612895G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000585117	p.Gly94Ser	missense variant	-	NC_000022.11:g.30612895G>A	ClinVar
rs141635240	p.Cys96Tyr	missense variant	-	NC_000022.11:g.30612902G>A	1000Genomes,ExAC,TOPMed
rs1473945438	p.Gln97Pro	missense variant	-	NC_000022.11:g.30612905A>C	TOPMed
COSM725924	p.Gln97Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30612904C>A	NCI-TCGA Cosmic
rs759584728	p.Gly98Ser	missense variant	-	NC_000022.11:g.30612907G>A	ExAC,TOPMed,gnomAD
RCV000635260	p.Lys99Thr	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30612911A>C	ClinVar
rs150225103	p.Lys99Thr	missense variant	-	NC_000022.11:g.30612911A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys99Ter	stop gained	-	NC_000022.11:g.30612910A>T	NCI-TCGA
rs752901101	p.Pro100Leu	missense variant	-	NC_000022.11:g.30612914C>T	ExAC,TOPMed,gnomAD
rs1160042286	p.Ser101Tyr	missense variant	-	NC_000022.11:g.30612917C>A	gnomAD
rs1241869286	p.Ser101Thr	missense variant	-	NC_000022.11:g.30612916T>A	TOPMed
rs763879488	p.Met102Val	missense variant	-	NC_000022.11:g.30612919A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly103Asp	missense variant	-	NC_000022.11:g.30612923G>A	NCI-TCGA
rs887210905	p.Gln104Arg	missense variant	-	NC_000022.11:g.30612926A>G	TOPMed,gnomAD
rs751321194	p.Leu105Val	missense variant	-	NC_000022.11:g.30612928C>G	ExAC,gnomAD
rs757170035	p.Leu105Pro	missense variant	-	NC_000022.11:g.30612929T>C	ExAC,gnomAD
rs1417020898	p.Ala106Val	missense variant	-	NC_000022.11:g.30612932C>T	gnomAD
rs781309237	p.Tyr108Cys	missense variant	-	NC_000022.11:g.30612938A>G	ExAC,TOPMed,gnomAD
rs779779694	p.Tyr108Ter	stop gained	-	NC_000022.11:g.30612939C>G	ExAC,TOPMed,gnomAD
rs781309237	p.Tyr108Ser	missense variant	-	NC_000022.11:g.30612938A>C	ExAC,TOPMed,gnomAD
rs781309237	p.Tyr108Phe	missense variant	-	NC_000022.11:g.30612938A>T	ExAC,TOPMed,gnomAD
rs778150805	p.Ala111Thr	missense variant	-	NC_000022.11:g.30612946G>A	ExAC,TOPMed,gnomAD
rs747369511	p.Ala111Val	missense variant	-	NC_000022.11:g.30612947C>T	ExAC,gnomAD
rs777103002	p.Leu112Phe	missense variant	-	NC_000022.11:g.30612949C>T	ExAC,gnomAD
rs1212779849	p.Ala114Thr	missense variant	-	NC_000022.11:g.30612955G>A	gnomAD
rs760095757	p.Asn115Ser	missense variant	-	NC_000022.11:g.30612959A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn115Lys	missense variant	-	NC_000022.11:g.30612960C>A	NCI-TCGA
rs759671133	p.CysGlu116Ter	stop gained	-	NC_000022.11:g.30612963_30612964del	ExAC,TOPMed,gnomAD
rs199728304	p.Phe118Cys	missense variant	-	NC_000022.11:g.30612968T>G	ESP,ExAC,TOPMed,gnomAD
RCV000307153	p.Phe118Ser	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30612968T>C	ClinVar
rs199728304	p.Phe118Ser	missense variant	-	NC_000022.11:g.30612968T>C	ESP,ExAC,TOPMed,gnomAD
rs775433848	p.Arg120Gly	missense variant	-	NC_000022.11:g.30612973A>G	ExAC,gnomAD
rs751328971	p.His122Leu	missense variant	-	NC_000022.11:g.30612980A>T	ExAC
rs373115973	p.His122Asp	missense variant	-	NC_000022.11:g.30612979C>G	ESP,ExAC,gnomAD
rs767468296	p.Lys123Asn	missense variant	-	NC_000022.11:g.30612984G>C	ExAC,gnomAD
rs368757546	p.Lys123Arg	missense variant	-	NC_000022.11:g.30612983A>G	ESP,ExAC,TOPMed,gnomAD
rs1375273786	p.Asp125His	missense variant	-	NC_000022.11:g.30612988G>C	TOPMed,gnomAD
rs1375273786	p.Asp125Asn	missense variant	-	NC_000022.11:g.30612988G>A	TOPMed,gnomAD
rs756127737	p.Arg126Ser	missense variant	-	NC_000022.11:g.30612993G>C	ExAC,gnomAD
rs552020145	p.Arg126Gly	missense variant	-	NC_000022.11:g.30612991A>G	1000Genomes,ExAC,gnomAD
rs779655163	p.Val128Phe	missense variant	-	NC_000022.11:g.30612997G>T	ExAC,TOPMed,gnomAD
rs200868221	p.Ser129Leu	missense variant	-	NC_000022.11:g.30613001C>T	ESP,ExAC,TOPMed,gnomAD
rs747887520	p.Leu131Phe	missense variant	-	NC_000022.11:g.30613006C>T	ExAC,TOPMed,gnomAD
rs1300779566	p.Lys132Gln	missense variant	-	NC_000022.11:g.30613009A>C	gnomAD
COSM3371893	p.Lys132Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30613010A>G	NCI-TCGA Cosmic
rs781606712	p.Phe134Leu	missense variant	-	NC_000022.11:g.30613017C>G	ExAC,gnomAD
rs781606712	p.Phe134Leu	missense variant	-	NC_000022.11:g.30613017C>A	ExAC,gnomAD
COSM4103470	p.Leu135Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30613019T>G	NCI-TCGA Cosmic
rs886057396	p.Glu136Asp	missense variant	-	NC_000022.11:g.30613023G>C	gnomAD
rs1479587262	p.Glu136Gly	missense variant	-	NC_000022.11:g.30613022A>G	gnomAD
RCV000364136	p.Glu136Asp	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30613023G>C	ClinVar
RCV000507918	p.Glu136Gly	missense variant	-	NC_000022.11:g.30613022A>G	ClinVar
rs775586639	p.Asp137Asn	missense variant	-	NC_000022.11:g.30613024G>A	ExAC,TOPMed,gnomAD
RCV000635257	p.Asp137Asn	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30613024G>A	ClinVar
rs1193277477	p.Glu138Lys	missense variant	-	NC_000022.11:g.30613027G>A	TOPMed
rs1487653650	p.Lys139Glu	missense variant	-	NC_000022.11:g.30613030A>G	TOPMed
rs534564986	p.Ala141Gly	missense variant	-	NC_000022.11:g.30613037C>G	1000Genomes,ExAC,gnomAD
rs762973293	p.Ala141Thr	missense variant	-	NC_000022.11:g.30613036G>A	ExAC,gnomAD
rs200771616	p.Ile142Val	missense variant	-	NC_000022.11:g.30613039A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200483369	p.Ile142Thr	missense variant	-	NC_000022.11:g.30613040T>C	1000Genomes,ExAC,gnomAD
rs1357321229	p.Gly143Val	missense variant	-	NC_000022.11:g.30614349G>T	gnomAD
rs747296848	p.His144Asp	missense variant	-	NC_000022.11:g.30614351C>G	ExAC,gnomAD
rs747296848	p.His144Tyr	missense variant	-	NC_000022.11:g.30614351C>T	ExAC,gnomAD
rs1015262047	p.His146Tyr	missense variant	-	NC_000022.11:g.30614357C>T	TOPMed
rs1414047053	p.His149Arg	missense variant	-	NC_000022.11:g.30614367A>G	TOPMed
rs1200083311	p.His149Tyr	missense variant	-	NC_000022.11:g.30614366C>T	gnomAD
rs770630089	p.His149Gln	missense variant	-	NC_000022.11:g.30614368C>A	ExAC,gnomAD
rs776493564	p.Pro150Ser	missense variant	-	NC_000022.11:g.30614369C>T	ExAC,TOPMed,gnomAD
rs776493564	p.Pro150Thr	missense variant	-	NC_000022.11:g.30614369C>A	ExAC,TOPMed,gnomAD
rs776493564	p.Pro150Ala	missense variant	-	NC_000022.11:g.30614369C>G	ExAC,TOPMed,gnomAD
rs1472234344	p.His151Leu	missense variant	-	NC_000022.11:g.30614373A>T	TOPMed
rs1282431048	p.Thr152Pro	missense variant	-	NC_000022.11:g.30614375A>C	gnomAD
rs759330825	p.Thr152Ile	missense variant	-	NC_000022.11:g.30614376C>T	ExAC,TOPMed,gnomAD
rs1282866254	p.Tyr154Cys	missense variant	-	NC_000022.11:g.30614382A>G	gnomAD
rs1187936976	p.Gln156Pro	missense variant	-	NC_000022.11:g.30614388A>C	TOPMed,gnomAD
rs1187936976	p.Gln156Arg	missense variant	-	NC_000022.11:g.30614388A>G	TOPMed,gnomAD
rs1187936976	p.Gln156Leu	missense variant	-	NC_000022.11:g.30614388A>T	TOPMed,gnomAD
rs762414295	p.Tyr157Ter	stop gained	-	NC_000022.11:g.30614392T>G	ExAC,gnomAD
rs369762215	p.Tyr157His	missense variant	-	NC_000022.11:g.30614390T>C	ESP,ExAC,TOPMed,gnomAD
rs1470199585	p.Tyr157Cys	missense variant	-	NC_000022.11:g.30614391A>G	gnomAD
rs1201200171	p.Leu159Pro	missense variant	-	NC_000022.11:g.30614397T>C	TOPMed
rs763642038	p.Ile161Thr	missense variant	-	NC_000022.11:g.30614403T>C	ExAC,gnomAD
rs1330557305	p.Leu162Val	missense variant	-	NC_000022.11:g.30614405C>G	TOPMed
rs751199750	p.Ala163Ser	missense variant	-	NC_000022.11:g.30614408G>T	ExAC,gnomAD
rs761592230	p.Ala163Gly	missense variant	-	NC_000022.11:g.30614409C>G	ExAC,TOPMed,gnomAD
rs761592230	p.Ala163Val	missense variant	-	NC_000022.11:g.30614409C>T	ExAC,TOPMed,gnomAD
rs754253807	p.Leu164Met	missense variant	-	NC_000022.11:g.30614411C>A	ExAC,TOPMed,gnomAD
RCV000431820	p.Leu166Ter	frameshift	-	NC_000022.11:g.30614416_30614417TC[1]	ClinVar
RCV000624115	p.Leu166Ter	frameshift	Inborn genetic diseases	NC_000022.11:g.30614416_30614417TC[1]	ClinVar
RCV000779370	p.Leu166Ter	frameshift	Transcobalamin II deficiency	NC_000022.11:g.30614416_30614417TC[1]	ClinVar
rs1444480553	p.Leu166Val	missense variant	-	NC_000022.11:g.30614417C>G	TOPMed,gnomAD
rs1444480553	p.Leu166Phe	missense variant	-	NC_000022.11:g.30614417C>T	TOPMed,gnomAD
rs200303429	p.His167Leu	missense variant	-	NC_000022.11:g.30614421A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1450759048	p.His167Tyr	missense variant	-	NC_000022.11:g.30614420C>T	TOPMed
rs1305877156	p.Gln168Glu	missense variant	-	NC_000022.11:g.30614423C>G	gnomAD
NCI-TCGA novel	p.Gln168Leu	missense variant	-	NC_000022.11:g.30614424A>T	NCI-TCGA
rs1161871032	p.Lys169Arg	missense variant	-	NC_000022.11:g.30614427A>G	TOPMed,gnomAD
rs200135085	p.Arg170Trp	missense variant	-	NC_000022.11:g.30614429C>T	ExAC,TOPMed,gnomAD
rs117353193	p.Arg170Gln	missense variant	-	NC_000022.11:g.30614430G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000266262	p.Arg170Gln	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30614430G>A	ClinVar
rs771200795	p.Val171Ile	missense variant	-	NC_000022.11:g.30614432G>A	ExAC,TOPMed,gnomAD
rs771200795	p.Val171Phe	missense variant	-	NC_000022.11:g.30614432G>T	ExAC,TOPMed,gnomAD
rs529354366	p.His172Leu	missense variant	-	NC_000022.11:g.30614436A>T	1000Genomes,ExAC,gnomAD
rs529354366	p.His172Arg	missense variant	-	NC_000022.11:g.30614436A>G	1000Genomes,ExAC,gnomAD
rs375193056	p.Ser174Asn	missense variant	-	NC_000022.11:g.30614442G>A	TOPMed,gnomAD
rs1193937094	p.Ser174Cys	missense variant	-	NC_000022.11:g.30614441A>T	gnomAD
rs142791153	p.Val175Met	missense variant	-	NC_000022.11:g.30614444G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000635264	p.Val175Met	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30614444G>A	ClinVar
rs773855163	p.Asp177Asn	missense variant	-	NC_000022.11:g.30614450G>A	ExAC,gnomAD
rs1207627059	p.Asp177Gly	missense variant	-	NC_000022.11:g.30614451A>G	TOPMed
rs1326736452	p.Leu179Ile	missense variant	-	NC_000022.11:g.30614456C>A	TOPMed,gnomAD
rs142651651	p.Leu180Pro	missense variant	-	NC_000022.11:g.30614460T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1244849533	p.Tyr181His	missense variant	-	NC_000022.11:g.30614462T>C	TOPMed,gnomAD
rs376685318	p.Tyr181Cys	missense variant	-	NC_000022.11:g.30614463A>G	ESP,ExAC,TOPMed,gnomAD
rs368792336	p.Ala182Thr	missense variant	-	NC_000022.11:g.30614465G>A	ESP,gnomAD
rs201925682	p.Val183Met	missense variant	-	NC_000022.11:g.30614468G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val183Leu	missense variant	-	NC_000022.11:g.30614468G>T	NCI-TCGA
rs1234046185	p.Glu184Gly	missense variant	-	NC_000022.11:g.30614472A>G	gnomAD
rs1298409889	p.Glu184Gln	missense variant	-	NC_000022.11:g.30614471G>C	TOPMed
rs146009793	p.Pro185Leu	missense variant	-	NC_000022.11:g.30614475C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759922664	p.Pro185Ser	missense variant	-	NC_000022.11:g.30614474C>T	ExAC,gnomAD
rs759922664	p.Pro185Ala	missense variant	-	NC_000022.11:g.30614474C>G	ExAC,gnomAD
rs759922664	p.Pro185Thr	missense variant	-	NC_000022.11:g.30614474C>A	ExAC,gnomAD
RCV000323191	p.Pro185Leu	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30614475C>T	ClinVar
rs571843449	p.Phe186Ser	missense variant	-	NC_000022.11:g.30614478T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1295178933	p.His187Tyr	missense variant	-	NC_000022.11:g.30614480C>T	TOPMed
RCV000622503	p.Gln188Ter	nonsense	Inborn genetic diseases	NC_000022.11:g.30614483C>T	ClinVar
rs1456983114	p.Gln188Ter	stop gained	-	NC_000022.11:g.30614483C>T	gnomAD
rs1213703970	p.Gln188Arg	missense variant	-	NC_000022.11:g.30614484A>G	gnomAD
rs777945731	p.Gly189Asp	missense variant	-	NC_000022.11:g.30614487G>A	ExAC,TOPMed,gnomAD
rs781440675	p.His190Arg	missense variant	-	NC_000022.11:g.30614490A>G	ExAC,gnomAD
rs757378346	p.His190Tyr	missense variant	-	NC_000022.11:g.30614489C>T	ExAC,gnomAD
rs151172486	p.His191Arg	missense variant	-	NC_000022.11:g.30614493A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser192Phe	missense variant	-	NC_000022.11:g.30614496C>T	NCI-TCGA
rs762023960	p.Asp194Glu	missense variant	-	NC_000022.11:g.30615302C>A	ExAC
rs766558182	p.Ala196Val	missense variant	-	NC_000022.11:g.30615307C>T	ExAC,TOPMed,gnomAD
rs766558182	p.Ala196Glu	missense variant	-	NC_000022.11:g.30615307C>A	ExAC,TOPMed,gnomAD
rs754756700	p.Ala197Val	missense variant	-	NC_000022.11:g.30615310C>T	ExAC,TOPMed,gnomAD
rs754756700	p.Ala197Gly	missense variant	-	NC_000022.11:g.30615310C>G	ExAC,TOPMed,gnomAD
rs754108422	p.Ala197Ser	missense variant	-	NC_000022.11:g.30615309G>T	ExAC,gnomAD
rs1294318583	p.Met198Val	missense variant	-	NC_000022.11:g.30615312A>G	gnomAD
VAR_001638	p.Met198Thr	Missense	-	-	UniProt
rs568757292	p.Ala199Val	missense variant	-	NC_000022.11:g.30615316C>T	1000Genomes,gnomAD
rs1251569284	p.Ala199Ser	missense variant	-	NC_000022.11:g.30615315G>T	TOPMed
rs767980244	p.Leu201Phe	missense variant	-	NC_000022.11:g.30615323G>C	gnomAD
rs778641068	p.Ala202Val	missense variant	-	NC_000022.11:g.30615325C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr204Ala	missense variant	-	NC_000022.11:g.30615330A>G	NCI-TCGA
rs748055258	p.Cys205Arg	missense variant	-	NC_000022.11:g.30615333T>C	ExAC,gnomAD
rs748055258	p.Cys205Gly	missense variant	-	NC_000022.11:g.30615333T>G	ExAC,gnomAD
rs1254190919	p.Leu206Pro	missense variant	-	NC_000022.11:g.30615337T>C	gnomAD
rs758284185	p.Leu206Val	missense variant	-	NC_000022.11:g.30615336C>G	ExAC,gnomAD
rs150472705	p.Arg208His	missense variant	-	NC_000022.11:g.30615343G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773590736	p.Arg208Cys	missense variant	-	NC_000022.11:g.30615342C>T	ExAC,TOPMed,gnomAD
rs770602221	p.Ser209Pro	missense variant	-	NC_000022.11:g.30615345T>C	ExAC,TOPMed,gnomAD
rs796064505	p.Ser209Ter	stop gained	-	NC_000022.11:g.30615346C>G	-
RCV000190379	p.Ser209Ter	nonsense	Transcobalamin II deficiency	NC_000022.11:g.30615346C>G	ClinVar
rs1436133751	p.Asn210Asp	missense variant	-	NC_000022.11:g.30615348A>G	gnomAD
rs1178324711	p.Asn210Lys	missense variant	-	NC_000022.11:g.30615350C>G	TOPMed,gnomAD
rs780965885	p.Phe211Leu	missense variant	-	NC_000022.11:g.30615353C>A	ExAC,TOPMed,gnomAD
rs1327719258	p.Phe211Val	missense variant	-	NC_000022.11:g.30615351T>G	TOPMed
rs745570731	p.Asn212His	missense variant	-	NC_000022.11:g.30615354A>C	ExAC,TOPMed,gnomAD
rs774581238	p.Pro213Leu	missense variant	-	NC_000022.11:g.30615358C>T	ExAC,TOPMed,gnomAD
rs774581238	p.Pro213Arg	missense variant	-	NC_000022.11:g.30615358C>G	ExAC,TOPMed,gnomAD
rs1258577765	p.Pro213Ser	missense variant	-	NC_000022.11:g.30615357C>T	gnomAD
rs372458211	p.Gly214Asp	missense variant	-	NC_000022.11:g.30615361G>A	ESP,ExAC,TOPMed,gnomAD
RCV000259877	p.Arg215Trp	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30615363C>T	ClinVar
rs760721315	p.Arg215Gln	missense variant	-	NC_000022.11:g.30615364G>A	ExAC,TOPMed,gnomAD
rs35838082	p.Arg215Trp	missense variant	-	NC_000022.11:g.30615363C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000317458	p.Arg215Gln	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30615364G>A	ClinVar
rs754057087	p.Arg218Trp	missense variant	-	NC_000022.11:g.30615372C>T	ExAC,TOPMed,gnomAD
rs759762355	p.Arg218Gln	missense variant	-	NC_000022.11:g.30615373G>A	ExAC,TOPMed,gnomAD
rs1049460608	p.Ile219Met	missense variant	-	NC_000022.11:g.30615377C>G	gnomAD
VAR_001639	p.Ile219Leu	Missense	-	-	UniProt
rs765026548	p.Met221Val	missense variant	-	NC_000022.11:g.30615381A>G	ExAC,gnomAD
rs1204447234	p.Met221Thr	missense variant	-	NC_000022.11:g.30615382T>C	TOPMed
rs1460799882	p.Ala222Thr	missense variant	-	NC_000022.11:g.30615384G>A	TOPMed
rs144889471	p.Ile223Val	missense variant	-	NC_000022.11:g.30615387A>G	ESP,ExAC,TOPMed,gnomAD
rs758319550	p.Arg224Thr	missense variant	-	NC_000022.11:g.30615391G>C	ExAC,gnomAD
rs777537964	p.Thr225Ala	missense variant	-	NC_000022.11:g.30615393A>G	ExAC,gnomAD
rs1198019350	p.Arg227Ter	stop gained	-	NC_000022.11:g.30615399C>T	gnomAD
rs17849434	p.Arg227Gln	missense variant	-	NC_000022.11:g.30615400G>A	UniProt,dbSNP
VAR_054542	p.Arg227Gln	missense variant	-	NC_000022.11:g.30615400G>A	UniProt
rs17849434	p.Arg227Gln	missense variant	-	NC_000022.11:g.30615400G>A	ESP,ExAC,TOPMed,gnomAD
rs17849434	p.Arg227Pro	missense variant	-	NC_000022.11:g.30615400G>C	ESP,ExAC,TOPMed,gnomAD
rs1198019350	p.Arg227Gly	missense variant	-	NC_000022.11:g.30615399C>G	gnomAD
rs745446091	p.Glu229Lys	missense variant	-	NC_000022.11:g.30615405G>A	ExAC,TOPMed,gnomAD
rs779288271	p.Ile230Met	missense variant	-	NC_000022.11:g.30615410C>G	ExAC,gnomAD
rs769342461	p.Ile230Phe	missense variant	-	NC_000022.11:g.30615408A>T	ExAC,gnomAD
rs1371777581	p.Lys232Thr	missense variant	-	NC_000022.11:g.30615415A>C	gnomAD
rs773696048	p.Ala233Thr	missense variant	-	NC_000022.11:g.30615417G>A	ExAC,gnomAD
rs770932162	p.Gln234Glu	missense variant	-	NC_000022.11:g.30615420C>G	ExAC,gnomAD
rs145641025	p.Gln234Pro	missense variant	-	NC_000022.11:g.30615421A>C	ESP,ExAC,TOPMed,gnomAD
rs765413082	p.Thr235Ile	missense variant	-	NC_000022.11:g.30615424C>T	ExAC,gnomAD
rs765413082	p.Thr235Asn	missense variant	-	NC_000022.11:g.30615424C>A	ExAC,gnomAD
rs1382507371	p.Pro236Ser	missense variant	-	NC_000022.11:g.30615426C>T	gnomAD
COSM1033317	p.Pro236His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615427C>A	NCI-TCGA Cosmic
COSM4825027	p.Glu237Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615429G>A	NCI-TCGA Cosmic
rs1338313632	p.His239Arg	missense variant	-	NC_000022.11:g.30615436A>G	gnomAD
rs368425204	p.Phe240Leu	missense variant	-	NC_000022.11:g.30615440T>A	ESP,ExAC,TOPMed,gnomAD
rs764004134	p.Phe240Tyr	missense variant	-	NC_000022.11:g.30615439T>A	ExAC
rs368425204	p.Phe240Leu	missense variant	-	NC_000022.11:g.30615440T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe240Leu	missense variant	-	NC_000022.11:g.30615438T>C	NCI-TCGA
rs1336982635	p.Gly241Glu	missense variant	-	NC_000022.11:g.30615442G>A	gnomAD
rs1273929738	p.Gly241Arg	missense variant	-	NC_000022.11:g.30615441G>A	TOPMed,gnomAD
rs1042954108	p.Tyr244Ser	missense variant	-	NC_000022.11:g.30615451A>C	TOPMed
rs1042954108	p.Tyr244Cys	missense variant	-	NC_000022.11:g.30615451A>G	TOPMed
rs749974534	p.Ser245Gly	missense variant	-	NC_000022.11:g.30615453A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser245Ile	missense variant	-	NC_000022.11:g.30615454G>T	NCI-TCGA
rs147738100	p.Thr246Ile	missense variant	-	NC_000022.11:g.30615457C>T	ESP,ExAC,TOPMed,gnomAD
COSM4103472	p.Ala249Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615466C>T	NCI-TCGA Cosmic
rs142553702	p.Phe252Leu	missense variant	-	NC_000022.11:g.30615603C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu253Ile	missense variant	-	NC_000022.11:g.30615604C>A	NCI-TCGA
rs757600574	p.Met254Thr	missense variant	-	NC_000022.11:g.30615608T>C	ExAC,TOPMed,gnomAD
rs752978666	p.Ser256Ala	missense variant	-	NC_000022.11:g.30615613T>G	TOPMed
rs752978666	p.Ser256Pro	missense variant	-	NC_000022.11:g.30615613T>C	TOPMed
RCV000537950	p.Ser256Ter	frameshift	Transcobalamin II deficiency	NC_000022.11:g.30615613dup	ClinVar
COSM5393411	p.Ser256Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615614C>T	NCI-TCGA Cosmic
rs1442158089	p.Pro257Arg	missense variant	-	NC_000022.11:g.30615617C>G	gnomAD
rs1005701580	p.Pro257Ala	missense variant	-	NC_000022.11:g.30615616C>G	TOPMed,gnomAD
rs1005701580	p.Pro257Ser	missense variant	-	NC_000022.11:g.30615616C>T	TOPMed,gnomAD
rs113331651	p.Met258Thr	missense variant	-	NC_000022.11:g.30615620T>C	ExAC,gnomAD
NCI-TCGA novel	p.Met258Lys	missense variant	-	NC_000022.11:g.30615620T>A	NCI-TCGA
NCI-TCGA novel	p.Met258CysPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.30615614C>-	NCI-TCGA
RCV000506598	p.Met258Ter	frameshift	-	NC_000022.11:g.30615613_30615614dup	ClinVar
rs781666065	p.Met258Val	missense variant	-	NC_000022.11:g.30615619A>G	ExAC,gnomAD
rs1801198	p.Arg259Pro	missense variant	-	NC_000022.11:g.30615623G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1801198	p.Arg259His	missense variant	-	NC_000022.11:g.30615623G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201501842	p.Arg259Cys	missense variant	-	NC_000022.11:g.30615622C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000374451	p.Arg259Pro	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30615623G>C	ClinVar
RCV000454394	p.Arg259Pro	missense variant	-	NC_000022.11:g.30615623G>C	ClinVar
RCV000000117	p.Arg259Pro	missense variant	TCN2 POLYMORPHISM	NC_000022.11:g.30615623G>C	ClinVar
rs768896953	p.Gly260Trp	missense variant	-	NC_000022.11:g.30615625G>T	ExAC,TOPMed,gnomAD
rs768896953	p.Gly260Arg	missense variant	-	NC_000022.11:g.30615625G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly260Glu	missense variant	-	NC_000022.11:g.30615626G>A	NCI-TCGA
rs779255018	p.Ala261Val	missense variant	-	NC_000022.11:g.30615629C>T	ExAC,TOPMed,gnomAD
rs896813483	p.Ala261Thr	missense variant	-	NC_000022.11:g.30615628G>A	TOPMed,gnomAD
rs779255018	p.Ala261Glu	missense variant	-	NC_000022.11:g.30615629C>A	ExAC,TOPMed,gnomAD
rs61743653	p.Glu262Gln	missense variant	-	NC_000022.11:g.30615631G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201848801	p.Leu263Val	missense variant	-	NC_000022.11:g.30615634C>G	ExAC,TOPMed,gnomAD
rs1476885074	p.Cys267Phe	missense variant	-	NC_000022.11:g.30615647G>T	gnomAD
rs1036041702	p.Cys267Arg	missense variant	-	NC_000022.11:g.30615646T>C	TOPMed
rs1476885074	p.Cys267Tyr	missense variant	-	NC_000022.11:g.30615647G>A	gnomAD
rs1329472979	p.Ala270Ser	missense variant	-	NC_000022.11:g.30615655G>T	TOPMed
rs201392026	p.Ala270Val	missense variant	-	NC_000022.11:g.30615656C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000635258	p.Ala270Val	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30615656C>T	ClinVar
rs1399886265	p.Arg271Ser	missense variant	-	NC_000022.11:g.30615660G>T	gnomAD
rs1325716749	p.Val272Gly	missense variant	-	NC_000022.11:g.30615662T>G	gnomAD
rs796472626	p.Val272Ile	missense variant	-	NC_000022.11:g.30615661G>A	TOPMed,gnomAD
rs796472626	p.Val272Phe	missense variant	-	NC_000022.11:g.30615661G>T	TOPMed,gnomAD
COSM6018183	p.Val272Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615662T>C	NCI-TCGA Cosmic
rs550053635	p.Ser277Asn	missense variant	-	NC_000022.11:g.30615677G>A	1000Genomes,TOPMed
rs550053635	p.Ser277Ile	missense variant	-	NC_000022.11:g.30615677G>T	1000Genomes,TOPMed
rs1364674541	p.Ser277Gly	missense variant	-	NC_000022.11:g.30615676A>G	gnomAD
rs1345486535	p.Leu278Val	missense variant	-	NC_000022.11:g.30615679C>G	gnomAD
rs1255641456	p.Gly281Glu	missense variant	-	NC_000022.11:g.30615689G>A	gnomAD
rs1316694869	p.Gln284Arg	missense variant	-	NC_000022.11:g.30615698A>G	gnomAD
rs376839271	p.Asn285Lys	missense variant	-	NC_000022.11:g.30615702T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149231407	p.Ala286Val	missense variant	-	NC_000022.11:g.30615704C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs369458782	p.Leu287Phe	missense variant	-	NC_000022.11:g.30615706C>T	ESP,ExAC,TOPMed,gnomAD
rs755104359	p.Met288Val	missense variant	-	NC_000022.11:g.30615709A>G	ExAC,gnomAD
rs779140403	p.Ile289Val	missense variant	-	NC_000022.11:g.30615712A>G	ExAC
rs1310755156	p.Ser290Phe	missense variant	-	NC_000022.11:g.30615716C>T	TOPMed
rs1423032257	p.Ser290Ala	missense variant	-	NC_000022.11:g.30615715T>G	gnomAD
rs1461973241	p.Gln291Ter	stop gained	-	NC_000022.11:g.30615718C>T	TOPMed,gnomAD
RCV000579082	p.Gln291Ter	nonsense	-	NC_000022.11:g.30615718C>T	ClinVar
COSM2937338	p.Leu293Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615724C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro294Ser	missense variant	-	NC_000022.11:g.30615727C>T	NCI-TCGA
COSM3553373	p.Pro294Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615728C>T	NCI-TCGA Cosmic
rs770684965	p.Val295Phe	missense variant	-	NC_000022.11:g.30615730G>T	ExAC,TOPMed,gnomAD
rs770684965	p.Val295Ile	missense variant	-	NC_000022.11:g.30615730G>A	ExAC,TOPMed,gnomAD
COSM1033319	p.Val295Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615731T>C	NCI-TCGA Cosmic
rs553954429	p.Leu296Val	missense variant	-	NC_000022.11:g.30615733C>G	1000Genomes,ExAC,gnomAD
rs759533329	p.Asn297Lys	missense variant	-	NC_000022.11:g.30615738C>G	ExAC,TOPMed,gnomAD
rs769224521	p.His298Tyr	missense variant	-	NC_000022.11:g.30615739C>T	ExAC,gnomAD
rs762540902	p.His298Gln	missense variant	-	NC_000022.11:g.30615741C>G	ExAC,gnomAD
rs774991049	p.His298Arg	missense variant	-	NC_000022.11:g.30615740A>G	ExAC,gnomAD
rs1346672980	p.Thr300Ala	missense variant	-	NC_000022.11:g.30615745A>G	TOPMed
rs763836785	p.Thr300Ile	missense variant	-	NC_000022.11:g.30615746C>T	ExAC,TOPMed,gnomAD
rs751209025	p.Tyr301Cys	missense variant	-	NC_000022.11:g.30615749A>G	ExAC
rs766711932	p.Ile302Val	missense variant	-	NC_000022.11:g.30615751A>G	ExAC,TOPMed
rs754330583	p.Ile302Thr	missense variant	-	NC_000022.11:g.30615752T>C	ExAC,TOPMed,gnomAD
rs953306184	p.Leu304Val	missense variant	-	NC_000022.11:g.30615757C>G	TOPMed,gnomAD
rs1189684372	p.Ile305Val	missense variant	-	NC_000022.11:g.30615760A>G	gnomAD
rs765360226	p.Phe306Leu	missense variant	-	NC_000022.11:g.30615763T>C	ExAC,TOPMed,gnomAD
COSM3553374	p.Phe306Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30615763T>G	NCI-TCGA Cosmic
rs1418182262	p.Pro307Leu	missense variant	-	NC_000022.11:g.30615767C>T	gnomAD
rs1382568858	p.Pro307Ser	missense variant	-	NC_000022.11:g.30615766C>T	gnomAD
rs1396153308	p.Cys309Ser	missense variant	-	NC_000022.11:g.30615773G>C	gnomAD
rs1335580225	p.Cys309Trp	missense variant	-	NC_000022.11:g.30615774T>G	gnomAD
rs1396153308	p.Cys309Tyr	missense variant	-	NC_000022.11:g.30615773G>A	gnomAD
RCV000000116	p.Cys309Ter	frameshift	Transcobalamin II deficiency	NC_000022.11:g.30615774_30615777del	ClinVar
NCI-TCGA novel	p.Leu310Met	missense variant	-	NC_000022.11:g.30615775C>A	NCI-TCGA
rs1338148384	p.Pro312Ser	missense variant	-	NC_000022.11:g.30615781C>T	gnomAD
rs747257199	p.Arg313Ter	stop gained	-	NC_000022.11:g.30615784C>T	ExAC,gnomAD
rs747257199	p.Arg313Gly	missense variant	-	NC_000022.11:g.30615784C>G	ExAC,gnomAD
rs576306465	p.Arg313Gln	missense variant	-	NC_000022.11:g.30615785G>A	1000Genomes
rs764172898	p.Met315Thr	missense variant	-	NC_000022.11:g.30617333T>C	ExAC,TOPMed,gnomAD
rs1330424607	p.Met315Ile	missense variant	-	NC_000022.11:g.30617334G>A	gnomAD
rs763378428	p.Met315Val	missense variant	-	NC_000022.11:g.30617332A>G	ExAC,gnomAD
rs1219369285	p.Pro318Leu	missense variant	-	NC_000022.11:g.30617342C>T	gnomAD
rs762058410	p.Ala320Gly	missense variant	-	NC_000022.11:g.30617348C>G	ExAC,TOPMed,gnomAD
rs762058410	p.Ala320Val	missense variant	-	NC_000022.11:g.30617348C>T	ExAC,TOPMed,gnomAD
rs1316088667	p.Glu321Lys	missense variant	-	NC_000022.11:g.30617350G>A	gnomAD
NCI-TCGA novel	p.Glu321Asp	missense variant	-	NC_000022.11:g.30617352G>C	NCI-TCGA
rs983633500	p.Thr322Ile	missense variant	-	NC_000022.11:g.30617354C>T	TOPMed,gnomAD
rs149299209	p.Pro324Ser	missense variant	-	NC_000022.11:g.30617359C>T	ESP,ExAC,TOPMed,gnomAD
rs1208413292	p.Gln325His	missense variant	-	NC_000022.11:g.30617364G>C	gnomAD
NCI-TCGA novel	p.Gln325Glu	missense variant	-	NC_000022.11:g.30617362C>G	NCI-TCGA
rs1267319234	p.Thr326Ile	missense variant	-	NC_000022.11:g.30617366C>T	gnomAD
rs1196409692	p.Gln327Arg	missense variant	-	NC_000022.11:g.30617369A>G	gnomAD
rs1294824435	p.Glu328Lys	missense variant	-	NC_000022.11:g.30617371G>A	TOPMed
rs1425164489	p.Ile329Val	missense variant	-	NC_000022.11:g.30617374A>G	gnomAD
rs755892011	p.Ile329Met	missense variant	-	NC_000022.11:g.30617376C>G	ExAC,TOPMed,gnomAD
rs1425164489	p.Ile329Phe	missense variant	-	NC_000022.11:g.30617374A>T	gnomAD
rs1357414952	p.Ile329Asn	missense variant	-	NC_000022.11:g.30617375T>A	gnomAD
rs1169605273	p.Ile330Val	missense variant	-	NC_000022.11:g.30617377A>G	gnomAD
rs779891790	p.Ser331Asn	missense variant	-	NC_000022.11:g.30617381G>A	ExAC,TOPMed,gnomAD
rs779891790	p.Ser331Ile	missense variant	-	NC_000022.11:g.30617381G>T	ExAC,TOPMed,gnomAD
rs1459292448	p.Val332Ile	missense variant	-	NC_000022.11:g.30617383G>A	gnomAD
rs117458738	p.Thr333Met	missense variant	-	NC_000022.11:g.30617387C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117458738	p.Thr333Lys	missense variant	-	NC_000022.11:g.30617387C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000307632	p.Thr333Met	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30617387C>T	ClinVar
rs771755125	p.Gln335Glu	missense variant	-	NC_000022.11:g.30617392C>G	ExAC,gnomAD
rs1279948941	p.Val336Met	missense variant	-	NC_000022.11:g.30617395G>A	TOPMed,gnomAD
rs1279948941	p.Val336Leu	missense variant	-	NC_000022.11:g.30617395G>T	TOPMed,gnomAD
rs890166383	p.Val336Gly	missense variant	-	NC_000022.11:g.30617396T>G	gnomAD
COSM1033320	p.Leu337Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30617398C>A	NCI-TCGA Cosmic
rs1193032547	p.Ser338Arg	missense variant	-	NC_000022.11:g.30617401A>C	TOPMed
rs1218083741	p.Leu339Phe	missense variant	-	NC_000022.11:g.30617404C>T	gnomAD
rs1017195499	p.Pro341Leu	missense variant	-	NC_000022.11:g.30617411C>T	TOPMed,gnomAD
rs746722274	p.Pro341Ala	missense variant	-	NC_000022.11:g.30617410C>G	ExAC,gnomAD
rs746722274	p.Pro341Thr	missense variant	-	NC_000022.11:g.30617410C>A	ExAC,gnomAD
rs1488789147	p.Pro342Leu	missense variant	-	NC_000022.11:g.30617414C>T	TOPMed,gnomAD
rs1488789147	p.Pro342Arg	missense variant	-	NC_000022.11:g.30617414C>G	TOPMed,gnomAD
rs763471940	p.Arg344Ser	missense variant	-	NC_000022.11:g.30617421A>T	ExAC,TOPMed,gnomAD
rs769078432	p.Gln345Ter	stop gained	-	NC_000022.11:g.30617422C>T	ExAC,TOPMed,gnomAD
rs774964870	p.Gln345Pro	missense variant	-	NC_000022.11:g.30617423A>C	ExAC,gnomAD
rs1325745251	p.Ile347Thr	missense variant	-	NC_000022.11:g.30617429T>C	TOPMed
rs761778896	p.Ile347Val	missense variant	-	NC_000022.11:g.30617428A>G	ExAC,TOPMed,gnomAD
rs761778896	p.Ile347Phe	missense variant	-	NC_000022.11:g.30617428A>T	ExAC,TOPMed,gnomAD
rs9621049	p.Ser348Phe	missense variant	-	NC_000022.11:g.30617432C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9621049	p.Ser348Cys	missense variant	-	NC_000022.11:g.30617432C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000301606	p.Ser348Phe	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30617432C>T	ClinVar
rs766113719	p.Leu350Val	missense variant	-	NC_000022.11:g.30617437C>G	ExAC,TOPMed,gnomAD
rs778691896	p.Gly352Glu	missense variant	-	NC_000022.11:g.30617444G>A	ExAC,gnomAD
rs754840231	p.Gly352Arg	missense variant	-	NC_000022.11:g.30617443G>A	ExAC,TOPMed,gnomAD
rs539987014	p.Ser353Cys	missense variant	-	NC_000022.11:g.30617447C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000358787	p.Ser353Cys	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30617447C>G	ClinVar
rs777423077	p.Thr354Ile	missense variant	-	NC_000022.11:g.30617450C>T	ExAC,gnomAD
rs1191654085	p.Thr354Ala	missense variant	-	NC_000022.11:g.30617449A>G	TOPMed
rs777423077	p.Thr354Ser	missense variant	-	NC_000022.11:g.30617450C>G	ExAC,gnomAD
rs780429477	p.Val355Met	missense variant	-	NC_000022.11:g.30617452G>A	ExAC,TOPMed,gnomAD
rs774709671	p.Lys361Asn	missense variant	-	NC_000022.11:g.30617472G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala362Val	missense variant	-	NC_000022.11:g.30617474C>T	NCI-TCGA
rs1237571997	p.Ala362Ser	missense variant	-	NC_000022.11:g.30617473G>T	TOPMed,gnomAD
rs1237571997	p.Ala362Pro	missense variant	-	NC_000022.11:g.30617473G>C	TOPMed,gnomAD
rs915080738	p.His363Arg	missense variant	-	NC_000022.11:g.30617477A>G	TOPMed,gnomAD
rs772074405	p.His363Gln	missense variant	-	NC_000022.11:g.30617478T>G	ExAC,TOPMed,gnomAD
rs1440142843	p.Glu364Val	missense variant	-	NC_000022.11:g.30617480A>T	gnomAD
rs773294559	p.Gly366Arg	missense variant	-	NC_000022.11:g.30617485G>A	ExAC,gnomAD
rs1057520098	p.Gly367Ter	stop gained	-	NC_000022.11:g.30617488G>T	gnomAD
RCV000434122	p.Gly367Ter	nonsense	-	NC_000022.11:g.30617488G>T	ClinVar
rs376218060	p.Thr369Arg	missense variant	-	NC_000022.11:g.30617495C>G	ESP,ExAC,TOPMed,gnomAD
rs376218060	p.Thr369Ile	missense variant	-	NC_000022.11:g.30617495C>T	ESP,ExAC,TOPMed,gnomAD
rs1406364381	p.Tyr370Cys	missense variant	-	NC_000022.11:g.30622970A>G	gnomAD
rs369589347	p.Tyr370Ter	stop gained	-	NC_000022.11:g.30622971T>G	ESP,ExAC,TOPMed,gnomAD
rs755806129	p.Glu371Lys	missense variant	-	NC_000022.11:g.30622972G>A	ExAC,gnomAD
rs1248431547	p.Gln373Arg	missense variant	-	NC_000022.11:g.30622979A>G	TOPMed,gnomAD
rs1279321570	p.Gln373Ter	stop gained	-	NC_000022.11:g.30622978C>T	gnomAD
rs1222777419	p.Ala374Thr	missense variant	-	NC_000022.11:g.30622981G>A	TOPMed
rs11557601	p.Ser375Phe	missense variant	-	NC_000022.11:g.30622985C>T	ESP,ExAC
rs1131603	p.Leu376Ser	missense variant	-	NC_000022.11:g.30622988T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1131603	p.Leu376Ser	missense variant	-	NC_000022.11:g.30622988T>C	UniProt,dbSNP
VAR_001641	p.Leu376Ser	missense variant	-	NC_000022.11:g.30622988T>C	UniProt
rs778237937	p.Leu376Phe	missense variant	-	NC_000022.11:g.30622989G>T	ExAC,gnomAD
RCV000305468	p.Leu376Ser	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30622988T>C	ClinVar
rs576197525	p.Ser377Ter	stop gained	-	NC_000022.11:g.30622991C>G	1000Genomes,ExAC,gnomAD
rs1449598206	p.Pro379Leu	missense variant	-	NC_000022.11:g.30622997C>T	TOPMed,gnomAD
rs781342382	p.Pro379Ser	missense variant	-	NC_000022.11:g.30622996C>T	ExAC,gnomAD
rs746024609	p.Tyr380Ser	missense variant	-	NC_000022.11:g.30623000A>C	ExAC,TOPMed,gnomAD
COSM478875	p.Leu381Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.30623003T>A	NCI-TCGA Cosmic
rs1194608069	p.Thr382Ile	missense variant	-	NC_000022.11:g.30623006C>T	TOPMed,gnomAD
rs144166182	p.Val384Met	missense variant	-	NC_000022.11:g.30623011G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762822411	p.Met385Ile	missense variant	-	NC_000022.11:g.30623016G>A	ExAC,gnomAD
rs375436976	p.Met385Leu	missense variant	-	NC_000022.11:g.30623014A>T	ESP,TOPMed,gnomAD
rs939944340	p.Lys387Asn	missense variant	-	NC_000022.11:g.30623022A>T	TOPMed
rs768633265	p.Lys387Glu	missense variant	-	NC_000022.11:g.30623020A>G	ExAC,gnomAD
rs774428161	p.Ala388Val	missense variant	-	NC_000022.11:g.30623024C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala389Ser	missense variant	-	NC_000022.11:g.30623026G>T	NCI-TCGA
rs367605153	p.Gly390Arg	missense variant	-	NC_000022.11:g.30623029G>A	ExAC,TOPMed,gnomAD
RCV000768103	p.Gly390Arg	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30623029G>A	ClinVar
rs765993081	p.Glu393Asp	missense variant	-	NC_000022.11:g.30623040G>C	ExAC,gnomAD
rs1362982609	p.Glu393Gly	missense variant	-	NC_000022.11:g.30623039A>G	gnomAD
rs1315650830	p.Phe394Ser	missense variant	-	NC_000022.11:g.30623042T>C	gnomAD
rs778112982	p.Trp395Leu	missense variant	-	NC_000022.11:g.30623045G>T	ExAC,gnomAD
rs758755056	p.Trp395Arg	missense variant	-	NC_000022.11:g.30623044T>A	ExAC,gnomAD
rs752003301	p.Gln396Lys	missense variant	-	NC_000022.11:g.30623047C>A	ExAC,gnomAD
rs1286710107	p.Leu397Pro	missense variant	-	NC_000022.11:g.30623051T>C	gnomAD
COSM285632	p.Leu398Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30623053C>A	NCI-TCGA Cosmic
rs769817524	p.Arg399Ter	stop gained	-	NC_000022.11:g.30623056C>T	ExAC,gnomAD
rs4820889	p.Arg399Pro	missense variant	-	NC_000022.11:g.30623057G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs4820889	p.Arg399Gln	missense variant	-	NC_000022.11:g.30623057G>A	UniProt,dbSNP
VAR_054544	p.Arg399Gln	missense variant	-	NC_000022.11:g.30623057G>A	UniProt
rs4820889	p.Arg399Gln	missense variant	-	NC_000022.11:g.30623057G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000768104	p.Arg399Gly	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30623056C>G	ClinVar
RCV000353236	p.Arg399Gln	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30623057G>A	ClinVar
rs527966482	p.Asp400Asn	missense variant	-	NC_000022.11:g.30623059G>A	1000Genomes
rs1214437394	p.Pro401His	missense variant	-	NC_000022.11:g.30623063C>A	TOPMed
rs749591278	p.Asn402Ser	missense variant	-	NC_000022.11:g.30623066A>G	ExAC,gnomAD
COSM444872	p.Asn402Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30623067C>A	NCI-TCGA Cosmic
rs1444459037	p.Thr403Asn	missense variant	-	NC_000022.11:g.30623069C>A	gnomAD
NCI-TCGA novel	p.Pro404Thr	missense variant	-	NC_000022.11:g.30623071C>A	NCI-TCGA
rs774303447	p.Leu405Val	missense variant	-	NC_000022.11:g.30623074C>G	ExAC,gnomAD
rs761607138	p.Gln407Lys	missense variant	-	NC_000022.11:g.30623080C>A	ExAC,gnomAD
rs1398054774	p.Gly408Val	missense variant	-	NC_000022.11:g.30626460G>T	TOPMed,gnomAD
rs746912877	p.Ile409Thr	missense variant	-	NC_000022.11:g.30626463T>C	ExAC,gnomAD
rs371229602	p.Ile409Val	missense variant	-	NC_000022.11:g.30626462A>G	ESP,ExAC,TOPMed,gnomAD
rs746912877	p.Ile409Ser	missense variant	-	NC_000022.11:g.30626463T>G	ExAC,gnomAD
rs145807876	p.Ala410Gly	missense variant	-	NC_000022.11:g.30626466C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala410Val	missense variant	-	NC_000022.11:g.30626466C>T	NCI-TCGA
rs931753951	p.Asp411Glu	missense variant	-	NC_000022.11:g.30626470C>G	TOPMed,gnomAD
rs776587089	p.Asp411Gly	missense variant	-	NC_000022.11:g.30626469A>G	ExAC,gnomAD
rs745363222	p.Tyr412Cys	missense variant	-	NC_000022.11:g.30626472A>G	ExAC,gnomAD
rs745363222	p.Tyr412Ser	missense variant	-	NC_000022.11:g.30626472A>C	ExAC,gnomAD
rs770099587	p.TyrArg412Ter	stop gained	-	NC_000022.11:g.30626473_30626474del	ExAC,gnomAD
RCV000768105	p.Tyr412Cys	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30626472A>G	ClinVar
rs148963479	p.Arg413Gly	missense variant	-	NC_000022.11:g.30626474A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000635256	p.Arg413Gly	missense variant	Transcobalamin II deficiency	NC_000022.11:g.30626474A>G	ClinVar
rs762520765	p.Pro414Ser	missense variant	-	NC_000022.11:g.30626477C>T	ExAC,gnomAD
rs767866096	p.Lys415Arg	missense variant	-	NC_000022.11:g.30626481A>G	ExAC,gnomAD
rs773473997	p.Asp416Asn	missense variant	-	NC_000022.11:g.30626483G>A	ExAC,TOPMed,gnomAD
rs1268784872	p.Ile420Thr	missense variant	-	NC_000022.11:g.30626496T>C	gnomAD
COSM1130459	p.Glu421Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.30626499A>T	NCI-TCGA Cosmic
rs761223605	p.Glu421Lys	missense variant	-	NC_000022.11:g.30626498G>A	ExAC,TOPMed,gnomAD
rs1169242188	p.Ser426Gly	missense variant	-	NC_000022.11:g.30626513A>G	gnomAD
rs1368832999	p.Ser426Asn	missense variant	-	NC_000022.11:g.30626514G>A	gnomAD
rs367829511	p.Trp427Leu	missense variant	-	NC_000022.11:g.30626517G>T	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001430	Adenoma	group	CTD_human
C0002886	Anemia, Macrocytic	disease	HPO
C0002888	Anemia, Megaloblastic	disease	BEFREE;CTD_human;LHGDN
C0002892	Anemia, Pernicious	disease	BEFREE
C0004352	Autistic Disorder	group	CTD_human
C0007758	Cerebellar Ataxia	phenotype	HPO
C0007766	Intracranial Aneurysm	disease	BEFREE
C0007820	Cerebrovascular Disorders	group	BEFREE
C0008924	Cleft upper lip	disease	CTD_human;LHGDN
C0009241	Cognition Disorders	group	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE;CTD_human
C0009404	Colorectal Neoplasms	group	CTD_human
C0010068	Coronary heart disease	disease	BEFREE
C0010346	Crohn Disease	disease	BEFREE
C0011991	Diarrhea	phenotype	HPO
C0013221	Drug toxicity	group	CTD_human
C0017636	Glioblastoma	disease	BEFREE
C0022660	Kidney Failure, Acute	disease	HPO
C0022661	Kidney Failure, Chronic	disease	BEFREE
C0023380	Lethargy	phenotype	HPO
C0023418	leukemia	disease	BEFREE
C0024312	Lymphopenia	disease	HPO
C0024530	Malaria	disease	LHGDN
C0025286	Meningioma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025500	Mesothelioma	disease	BEFREE
C0026633	Mouth Abnormalities	group	HPO
C0026654	Moyamoya Disease	disease	GWASCAT
C0027708	Nephroblastoma	disease	GWASCAT;GWASDB
C0027794	Neural Tube Defects	group	BEFREE;LHGDN
C0028754	Obesity	disease	BEFREE
C0030312	Pancytopenia	disease	HPO
C0033578	Prostatic Neoplasms	group	CTD_human
C0038454	Cerebrovascular accident	group	BEFREE
C0040034	Thrombocytopenia	phenotype	HPO
C0041234	Chagas Disease	disease	BEFREE
C0041755	Adverse reaction to drug	group	CTD_human
C0041782	Deficiency anemias	group	BEFREE
C0042963	Vomiting	phenotype	HPO
C0151786	Muscle Weakness	phenotype	HPO
C0162538	Immunoglobulin A deficiency (disorder)	disease	HPO
C0205646	Adenoma, Basal Cell	disease	CTD_human
C0205647	Follicular adenoma	disease	CTD_human
C0205648	Adenoma, Microcystic	disease	CTD_human
C0205649	Adenoma, Monomorphic	disease	CTD_human
C0205650	Papillary adenoma	disease	CTD_human
C0205651	Adenoma, Trabecular	disease	CTD_human
C0206659	Embryonal Carcinoma	disease	BEFREE
C0220810	Congenital defects	group	BEFREE
C0231246	Failure to gain weight	phenotype	HPO
C0238801	Bone marrow megaloblastic (finding)	phenotype	HPO
C0239989	IgM deficiency	phenotype	HPO
C0270612	Leukoencephalopathies	group	CTD_human
C0279626	Squamous cell carcinoma of esophagus	disease	CTD_human
C0280803	Primary central nervous system lymphoma	disease	BEFREE
C0342701	Transcobalamin II deficiency	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C0376358	Malignant neoplasm of prostate	disease	CTD_human
C0376628	Chromosome Breakage	phenotype	HPO
C0392386	Decreased platelet count	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0598608	Hyperhomocysteinemia	disease	LHGDN
C0795690	Congenital omphalocele	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0853697	Neutrophil count decreased	phenotype	HPO
C0858867	Reticulocytopenia	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C0917996	Cerebral Aneurysm	disease	BEFREE
C0948008	Ischemic stroke	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE;CTD_human
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1762616	Meningioma, benign, no ICD-O subtype	disease	BEFREE
C1843367	Poor school performance	phenotype	HPO
C1853238	Conotruncal defect	disease	BEFREE
C1855119	Methylmalonic aciduria	disease	HPO
C1858991	Childhood Ataxia with Central Nervous System Hypomyelinization	disease	CTD_human
C2315100	Pediatric failure to thrive	disease	HPO
C2316810	Chronic kidney disease stage 5	disease	BEFREE
C2609414	Acute kidney injury	disease	HPO
C2700617	Irritation - emotion	phenotype	HPO
C2931384	Moyamoya disease 1	disease	GWASCAT
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3887639	Autoimmune gastritis	disease	BEFREE
C4017311	TRANSCOLABAMIN II DEFICIENCY	phenotype	CLINVAR
C4020876	Dull intelligence	phenotype	HPO
C4520847	Immunoglobulin G subclass deficiency (finding)	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0031419	cobalamin binding	IDA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006824	cobalt ion transport	IEA
GO:0009235	cobalamin metabolic process	TAS
GO:0015889	cobalamin transport	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IDA
GO:0005768	endosome	TAS
GO:0043202	lysosomal lumen	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1643685	Disease	TAS
R-HSA-196741	Cobalamin (Cbl, vitamin B12) transport and metabolism	TAS
R-HSA-196849	Metabolism of water-soluble vitamins and cofactors	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS
R-HSA-3296469	Defects in cobalamin (B12) metabolism	TAS
R-HSA-3296482	Defects in vitamin and cofactor metabolism	TAS
R-HSA-3359454	Defective TCN2 causes hereditary megaloblastic anemia	TAS
R-HSA-3359485	Defective CD320 causes methylmalonic aciduria	TAS
R-HSA-5668914	Diseases of metabolism	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in increased expression of TCN2 mRNA	29038090
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane affects the expression of TCN2 mRNA	19414516
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of TCN2 mRNA	19114083
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of TCN2 mRNA	23196670
D000082	Acetaminophen	Acetaminophen affects the expression of TCN2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of TCN2 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of TCN2 intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of TCN2 mRNA	16483693
D000661	Amphetamine	Amphetamine results in increased expression of TCN2 mRNA	30779732
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of TCN2 mRNA	24449571
C547126	AZM551248	AZM551248 results in increased expression of TCN2 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TCN2 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TCN2 mRNA	27195522
C006780	bisphenol A	bisphenol A results in increased expression of TCN2 mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased expression of TCN2 mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of TCN2 mRNA	30816183
C038091	butylparaben	butylparaben results in decreased expression of TCN2 mRNA	29458080
C018475	butyraldehyde	butyraldehyde results in decreased expression of TCN2 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of TCN2 mRNA	18804290
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of TCN2 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of TCN2 mRNA	31150632
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of TCN2 mRNA	18804290
D002737	Chloroprene	Chloroprene results in increased expression of TCN2 mRNA	23125180
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of TCN2 mRNA	27392435
D002994	Clofibrate	Clofibrate results in decreased expression of TCN2 mRNA	17585979
C029892	cupric chloride	cupric chloride results in decreased expression of TCN2 mRNA	24650576
D003471	Cuprizone	Cuprizone results in increased expression of TCN2 mRNA	26577399
D003907	Dexamethasone	Dexamethasone results in decreased expression of TCN2 mRNA	12732289
D004041	Dietary Fats	Dietary Fats results in decreased expression of TCN2 mRNA	18042831
D004317	Doxorubicin	Doxorubicin results in decreased expression of TCN2 mRNA	29803840
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of TCN2 mRNA	30165855
D000431	Ethanol	Ethanol results in increased expression of TCN2 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of TCN2 mRNA	29458080
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of TCN2 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of TCN2 mRNA	16174780; 17942748;
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TCN2 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of TCN2 mRNA	16174780
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of TCN2 mRNA	23129252
D005485	Flutamide	Flutamide results in decreased expression of TCN2 mRNA	24136188
C069837	fullerene C60	fullerene C60 results in increased expression of TCN2 mRNA	19167457
D006220	Haloperidol	Haloperidol results in decreased expression of TCN2 mRNA	29458080
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane results in decreased expression of TCN2 mRNA	18804290
D007545	Isoproterenol	Isoproterenol results in increased expression of TCN2 mRNA	20003209
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of TCN2 mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of TCN2 mRNA	27392435
D019344	Lactic Acid	Lactic Acid results in increased expression of TCN2 mRNA	30851411
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in increased expression of TCN2 mRNA	21641980
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of TCN2 mRNA	26378955
D008694	Methamphetamine	Methamphetamine results in increased expression of TCN2 mRNA	29802913
D008727	Methotrexate	TCN2 gene polymorphism affects the metabolism of Methotrexate	15753437
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of TCN2 mRNA	18804290
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of TCN2 mRNA	26011545
C008493	methylselenic acid	methylselenic acid results in increased expression of TCN2 mRNA	18548127
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of TCN2 mRNA	29458080
D037742	Nanotubes, Carbon	Nanotubes, Carbon affects the expression of TCN2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of TCN2 mRNA	25554681
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of TCN2 mRNA	20188158
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of TCN2 mRNA	25729387
D010126	Ozone	[Water Pollutants, Chemical co-treated with Ozone] results in increased expression of TCN2 mRNA	23246600
D000073878	Palm Oil	Palm Oil results in decreased expression of TCN2 mRNA	18042831
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of TCN2 mRNA	18692542
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of TCN2 mRNA	18804290
D010578	Petroleum	Petroleum affects the expression of TCN2 mRNA	25208076
C006068	propylparaben	propylparaben results in decreased expression of TCN2 mRNA	29458080
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of TCN2 mRNA	27029645
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of TCN2 mRNA	25895662
D012834	Silver	Silver results in decreased expression of TCN2 mRNA	27131904
C017947	sodium arsenite	sodium arsenite affects the expression of TCN2 mRNA	19590694
C017947	sodium arsenite	sodium arsenite results in increased expression of TCN2 mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in increased expression of TCN2 mRNA	29301061
C016104	sodium bichromate	sodium bichromate results in decreased expression of TCN2 mRNA	24612858
D012999	Soman	Soman results in increased expression of TCN2 mRNA	19281266
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in increased expression of TCN2 mRNA	21641980
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of TCN2 mRNA	26378955
D013629	Tamoxifen	Tamoxifen affects the expression of TCN2 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of TCN2 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of TCN2 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	AHR protein alternative form affects the reaction [Tetrachlorodibenzodioxin results in decreased expression of TCN2 mRNA]	21215274
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TCN2 mRNA	21215274
D013806	Theophylline	Theophylline results in increased expression of TCN2 mRNA	16083514
C009495	titanium dioxide	titanium dioxide results in decreased expression of TCN2 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in increased expression of TCN2 mRNA	23131501; 27760801;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of TCN2 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of TCN2 mRNA	28065790; 30291989;
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of TCN2 mRNA	25729387
D014414	Tungsten	Tungsten results in decreased expression of TCN2 mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in decreased expression of TCN2 mRNA	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of TCN2 mRNA	19136453
D014640	Vancomycin	Vancomycin results in increased expression of TCN2 mRNA	18930951
D014805	Vitamin B 12	TCN2 protein binds to and results in increased uptake of Vitamin B 12	14632784
D014874	Water Pollutants, Chemical	Water Pollutants, Chemical affects the expression of TCN2 mRNA	25208076
D014874	Water Pollutants, Chemical	[Water Pollutants, Chemical co-treated with Ozone] results in increased expression of TCN2 mRNA	23246600
D015215	Zidovudine	[Zidovudine co-treated with IFNA1 protein] results in increased expression of TCN2 mRNA	20370541

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0170	Cobalt
KW-0171	Cobalt transport
KW-0903	Direct protein sequencing
KW-1015	Disulfide bond
KW-0406	Ion transport
KW-0479	Metal-binding
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR002157	Cbl-bd_prot
IPR027954	DUF4430
IPR008930	Terpenoid_cyclase/PrenylTrfase

PROSITE

PROSITE ID	PROSITE Term
PS00468	COBALAMIN_BINDING

Pfam

Pfam ID	Pfam Term
PF01122	Cobalamin_bind
PF14478	DUF4430

Gene: TCN2

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction