TCN2

transcobalamin 2

Summary

This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

Known Variants545 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs5749131	22:31,001,822	A/G	regulatory region variant	—
rs5753231	22:31,003,069	T/C	—	likely benign
rs143029449	22:31,003,075	C/T	—	likely benign
rs16988823	22:31,003,079	G/A	—	uncertain significance
rs79083159	22:31,003,104	C/T	—	benign
rs886057394	22:31,003,128	G/A	—	uncertain significance
rs2240433	22:31,003,138	G/A	—	uncertain significance
rs886057395	22:31,003,166	C/G	—	uncertain significance
rs370882214	22:31,003,221	T/G	—	uncertain significance
rs1432247695	22:31,003,252	C/T	—	uncertain significance
rs199511962	22:31,003,285	A/G	—	uncertain significance
rs771507572	22:31,003,313	G/A	—	uncertain significance
rs1489889957	22:31,003,327	C/G	—	uncertain significance
rs572942248	22:31,003,328	C/T	—	uncertain significance
rs2145528950	22:31,003,335	C/A	—	uncertain significance
rs773549344	22:31,003,336	C/T	—	likely benign
rs2517894740	22:31,003,337	T/C	—	conflicting classifications of pathogenicity
rs200848171	22:31,003,339	C/T	—	likely benign
rs2517894753	22:31,003,342	C/G	—	likely benign
rs2517894763	22:31,003,345	C/T	—	likely benign
rs2145528985	22:31,003,348	T/A	—	likely benign
rs2145528995	22:31,003,349	C/G	—	uncertain significance
rs2517894782	22:31,003,350	T/C	—	uncertain significance
rs1027452763	22:31,003,351	G/A	—	likely benign
rs753691523	22:31,003,362	G/A	—	uncertain significance
rs759462885	22:31,003,367	C/G	—	uncertain significance
rs1288298673	22:31,003,372	T/C	—	likely benign
rs2517894864	22:31,003,375	G/A	—	likely benign
rs752210008	22:31,003,377	T/C	—	uncertain significance
rs2517894888	22:31,003,386	A/T	—	uncertain significance
rs1410673132	22:31,003,391	C/T	—	likely benign
rs141519384	22:31,003,393	C/T	—	conflicting classifications of pathogenicity
rs777313334	22:31,003,394	G/A	—	likely benign
rs370228236	22:31,003,395	C/T	—	likely benign
rs756966926	22:31,003,396	C/T	—	likely benign
rs2517894927	22:31,003,397	T/C	—	likely benign
rs2145529135	22:31,003,398	C/G	—	likely benign
rs780327616	22:31,003,400	A/G	—	likely benign
rs2517894936	22:31,003,401	T/A	—	likely benign
rs1602039338	22:31,003,402	C/T	—	likely benign
rs28704032	22:31,003,454	A/G	—	likely benign
rs16988828	22:31,003,561	G/A	—	benign
rs56040857	22:31,006,702	G/T	—	benign
rs77763564	22:31,006,841	C/T	—	benign
rs1260659125	22:31,006,848	C/A	—	likely benign
rs1036183849	22:31,006,849	T/C	—	likely benign
rs773798398	22:31,006,850	T/C	—	likely benign
rs201199639	22:31,006,851	T/C	—	likely benign
rs1602043415	22:31,006,852	T/A	—	likely benign
rs767065449	22:31,006,858	A/T	—	uncertain significance
rs9606756	22:31,006,860	A/G	missense variant	benign
rs755866662	22:31,006,863	C/T	—	uncertain significance
rs2087528302	22:31,006,874	C/T	—	likely benign
rs1365708322	22:31,006,880	T/C	—	likely benign
rs2517899965	22:31,006,881	C/T	—	likely benign
rs116605132	22:31,006,882	T/G	—	likely benign
rs576996415	22:31,006,883	G/A	—	benign
rs2087528743	22:31,006,884	G/A	—	uncertain significance
rs1485632884	22:31,006,892	G/A	—	likely benign
rs1456362282	22:31,006,895	G/C	—	uncertain significance
rs1182829423	22:31,006,898	C/T	—	likely benign
rs2087529055	22:31,006,901	G/A	—	likely benign
rs1326813642	22:31,006,902	C/T	—	uncertain significance
rs2087529252	22:31,006,905	C/G	—	uncertain significance
rs377673954	22:31,006,907	C/T	—	likely benign
rs2517900058	22:31,006,909	T/C	—	uncertain significance
rs2517900078	22:31,006,913	T/C	—	likely benign
rs374992877	22:31,006,923	C/T	—	uncertain significance
rs770055978	22:31,006,924	G/A	—	uncertain significance
rs143250551	22:31,006,931	C/T	—	conflicting classifications of pathogenicity
rs200833932	22:31,006,932	C/A	—	uncertain significance
rs921002639	22:31,006,943	G/A	—	likely benign
rs932382635	22:31,006,946	C/T	—	likely benign
rs1555894597	22:31,006,947	C/T	—	uncertain significance
rs2517900149	22:31,006,949	C/T	—	likely benign
rs771569755	22:31,006,952	C/T	—	likely benign
rs201701227	22:31,006,957	A/G	—	uncertain significance
rs2145536712	22:31,006,961	G/A	—	likely benign
rs752965806	22:31,006,963	G/T	—	uncertain significance
rs763376780	22:31,006,964	C/T	—	likely benign
rs764601482	22:31,006,967	A/G	—	likely benign
rs757905563	22:31,006,968	C/T	—	uncertain significance
rs1385212847	22:31,006,970	C/T	—	likely benign
rs919468097	22:31,006,973	C/T	—	likely benign
rs145474456	22:31,006,977	A/G	—	uncertain significance
rs2087531325	22:31,006,990	G/C	—	uncertain significance
rs2517900325	22:31,006,994	C/G	—	likely benign
rs148829072	22:31,007,003	C/T	—	likely benign
rs772065102	22:31,007,009	C/T	—	likely benign
rs2517900395	22:31,007,017	G/C	—	uncertain significance
rs776322424	22:31,007,018	C/T	—	likely benign
rs75680863	22:31,007,023	A/G	missense variant	uncertain significance
rs2087532634	22:31,007,035	A/C	—	uncertain significance
rs2087532682	22:31,007,036	G/T	—	uncertain significance
rs151327362	22:31,007,042	C/T	—	likely benign
rs141857280	22:31,007,045	C/G	—	likely benign
rs2517900510	22:31,007,057	C/G	—	likely benign
rs747963904	22:31,007,058	C/T	—	likely benign
rs1335095510	22:31,007,060	C/T	—	likely benign
rs1206016639	22:31,007,062	C/T	—	likely benign

Showing 100 of 545 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.