Canonical Allele Identifier: CA363495922

Gene: C2

Linked Data

• MyVariant Identifiers: chr6:g.31901462T>A (hg19) ; chr6:g.31933685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933685T>A , CM000668.2:g.31933685T>A	GRCh38
NC_000006.11:g.31901462T>A , CM000668.1:g.31901462T>A	GRCh37
NC_000006.10:g.32009441T>A	NCBI36
NG_011730.1:g.11197T>A , LRG_26:g.11197T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.332T>A	ENSP00000391354.3:p.Val111Asp
ENST00000452323.7:c.149T>A	ENSP00000392322.2:p.Val50Asp
ENST00000468407.2:c.518T>A	ENSP00000512075.1:p.Val173Asp
ENST00000497706.6:c.13T>A	ENSP00000417482.2:p.Ser5Thr
ENST00000695637.1:c.113T>A	ENSP00000512074.1:p.Val38Asp
ENST00000695638.1:c.518T>A	ENSP00000512076.1:p.Val173Asp
ENST00000695639.1:n.238T>A
ENST00000695640.1:n.373T>A
ENST00000695644.1:c.122T>A	ENSP00000512079.1:p.Val41Asp
ENST00000299367.10:c.518T>A MANE Select	ENSP00000299367.5:p.Val173Asp
ENST00000299367.9:c.518T>A	ENSP00000299367.5:p.Val173Asp
ENST00000383177.7:c.112T>A
ENST00000411571.6:c.13T>A	ENSP00000388727.2:p.Ser5Thr
ENST00000418949.6:c.518T>A	ENSP00000406190.2:p.Val173Asp
ENST00000442278.6:c.122T>A	ENSP00000395683.2:p.Val41Asp
ENST00000447952.6:c.332T>A	ENSP00000391354.2:p.Val111Asp
ENST00000452202.5:c.149T>A	ENSP00000406121.1:p.Val50Asp
ENST00000452323.6:c.149T>A	ENSP00000392322.2:p.Val50Asp
ENST00000456570.5:c.332T>A	ENSP00000410815.1:p.Val111Asp
ENST00000469372.5:c.13T>A	ENSP00000418923.1:p.Ser5Thr
ENST00000477310.1:c.443-3634T>A	ENSP00000418996.1:n.443-3634T>A
ENST00000482060.5:c.*231T>A	ENSP00000418332.1:n.*231T>A
ENST00000484636.1:c.13T>A	ENSP00000420305.1:p.Ser5Thr
ENST00000494905.1:c.95T>A	ENSP00000419048.1:p.Val32Asp
ENST00000497706.5:c.13T>A	ENSP00000417482.1:p.Ser5Thr
NM_000063.5:c.518T>A	NP_000054.2:p.Val173Asp
NM_001145903.2:c.122T>A	NP_001139375.1:p.Val41Asp
NM_001178063.2:c.149T>A	NP_001171534.1:p.Val50Asp
NM_001282457.1:c.13T>A	NP_001269386.1:p.Ser5Thr
NM_001282458.1:c.431T>A	NP_001269387.1:p.Val144Asp
NM_001282459.1:c.518T>A	NP_001269388.1:p.Val173Asp
NM_000063.6:c.518T>A MANE Select	NP_000054.2:p.Val173Asp
NM_001145903.3:c.122T>A	NP_001139375.1:p.Val41Asp
NM_001282457.2:c.13T>A	NP_001269386.1:p.Ser5Thr
NM_001282458.2:c.431T>A	NP_001269387.1:p.Val144Asp
NM_001282459.2:c.518T>A	NP_001269388.1:p.Val173Asp
NM_001178063.3:c.149T>A	NP_001171534.1:p.Val50Asp