Canonical Allele Identifier: CA363376303

Gene: C2

Linked Data

• dbSNP Id: rs1771019867
• MyVariant Identifiers: chr6:g.31910847C>T (hg19) ; chr6:g.31943070C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943070C>T , CM000668.2:g.31943070C>T	GRCh38
NC_000006.11:g.31910847C>T , CM000668.1:g.31910847C>T	GRCh37
NC_000006.10:g.32018826C>T	NCBI36
NG_008191.1:g.2127C>T , LRG_136:g.2127C>T
NG_011730.1:g.20582C>T , LRG_26:g.20582C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447952.7:c.1145C>T	ENSP00000391354.3:p.Ala382Val
ENST00000452323.7:c.689C>T	ENSP00000392322.2:p.Ala230Val
ENST00000468407.2:c.1331C>T	ENSP00000512075.1:p.Ala444Val
ENST00000497706.6:c.692C>T	ENSP00000417482.2:p.Ala231Val
ENST00000695637.1:c.926C>T	ENSP00000512074.1:p.Ala309Val
ENST00000695638.1:c.1331C>T	ENSP00000512076.1:p.Ala444Val
ENST00000695644.1:c.935C>T	ENSP00000512079.1:p.Ala312Val
ENST00000695645.1:n.701C>T
ENST00000695646.1:n.803C>T
ENST00000299367.10:c.1331C>T MANE Select	ENSP00000299367.5:p.Ala444Val
ENST00000299367.9:c.1331C>T	ENSP00000299367.5:p.Ala444Val
ENST00000383177.7:c.652C>T
ENST00000442278.6:c.935C>T	ENSP00000395683.2:p.Ala312Val
ENST00000452323.6:c.689C>T	ENSP00000392322.2:p.Ala230Val
ENST00000456570.5:c.872C>T	ENSP00000410815.1:p.Ala291Val
ENST00000469372.5:c.593C>T	ENSP00000418923.1:p.Ala198Val
ENST00000477310.1:c.674-155C>T	ENSP00000418996.1:n.674-155C>T
ENST00000482060.5:c.*1044C>T	ENSP00000418332.1:n.*1044C>T
ENST00000485690.5:c.543C>T
ENST00000486124.5:n.1607C>T
ENST00000497706.5:c.692C>T	ENSP00000417482.1:p.Ala231Val
NM_000063.5:c.1331C>T	NP_000054.2:p.Ala444Val
NM_001145903.2:c.935C>T	NP_001139375.1:p.Ala312Val
NM_001178063.2:c.689C>T	NP_001171534.1:p.Ala230Val
NM_001282457.1:c.593C>T	NP_001269386.1:p.Ala198Val
NM_001282458.1:c.1244C>T	NP_001269387.1:p.Ala415Val
NM_000063.6:c.1331C>T MANE Select	NP_000054.2:p.Ala444Val
NM_001145903.3:c.935C>T	NP_001139375.1:p.Ala312Val
NM_001282457.2:c.593C>T	NP_001269386.1:p.Ala198Val
NM_001282458.2:c.1244C>T	NP_001269387.1:p.Ala415Val
NM_001178063.3:c.689C>T	NP_001171534.1:p.Ala230Val