Canonical Allele Identifier: CA363495921

Gene: C2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31933684G>A , CM000668.2:g.31933684G>A	GRCh38
NC_000006.11:g.31901461G>A , CM000668.1:g.31901461G>A	GRCh37
NC_000006.10:g.32009440G>A	NCBI36
NG_011730.1:g.11196G>A , LRG_26:g.11196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447952.7:c.331G>A	ENSP00000391354.3:p.Val111Ile
ENST00000452323.7:c.148G>A	ENSP00000392322.2:p.Val50Ile
ENST00000468407.2:c.517G>A	ENSP00000512075.1:p.Val173Ile
ENST00000497706.6:c.12G>A	ENSP00000417482.2:p.Arg4=
ENST00000695637.1:c.112G>A	ENSP00000512074.1:p.Val38Ile
ENST00000695638.1:c.517G>A	ENSP00000512076.1:p.Val173Ile
ENST00000695639.1:n.237G>A
ENST00000695640.1:n.372G>A
ENST00000695644.1:c.121G>A	ENSP00000512079.1:p.Val41Ile
ENST00000299367.10:c.517G>A MANE Select	ENSP00000299367.5:p.Val173Ile
ENST00000299367.9:c.517G>A	ENSP00000299367.5:p.Val173Ile
ENST00000383177.7:c.111G>A
ENST00000411571.6:c.12G>A	ENSP00000388727.2:p.Arg4=
ENST00000418949.6:c.517G>A	ENSP00000406190.2:p.Val173Ile
ENST00000442278.6:c.121G>A	ENSP00000395683.2:p.Val41Ile
ENST00000447952.6:c.331G>A	ENSP00000391354.2:p.Val111Ile
ENST00000452202.5:c.148G>A	ENSP00000406121.1:p.Val50Ile
ENST00000452323.6:c.148G>A	ENSP00000392322.2:p.Val50Ile
ENST00000456570.5:c.331G>A	ENSP00000410815.1:p.Val111Ile
ENST00000469372.5:c.12G>A	ENSP00000418923.1:p.Arg4=
ENST00000477310.1:c.443-3635G>A	ENSP00000418996.1:n.443-3635G>A
ENST00000482060.5:c.*230G>A	ENSP00000418332.1:n.*230G>A
ENST00000484636.1:c.12G>A	ENSP00000420305.1:p.Arg4=
ENST00000494905.1:c.94G>A	ENSP00000419048.1:p.Val32Ile
ENST00000497706.5:c.12G>A	ENSP00000417482.1:p.Arg4=
NM_000063.5:c.517G>A	NP_000054.2:p.Val173Ile
NM_001145903.2:c.121G>A	NP_001139375.1:p.Val41Ile
NM_001178063.2:c.148G>A	NP_001171534.1:p.Val50Ile
NM_001282457.1:c.12G>A	NP_001269386.1:p.Arg4=
NM_001282458.1:c.430G>A	NP_001269387.1:p.Val144Ile
NM_001282459.1:c.517G>A	NP_001269388.1:p.Val173Ile
NM_000063.6:c.517G>A MANE Select	NP_000054.2:p.Val173Ile
NM_001145903.3:c.121G>A	NP_001139375.1:p.Val41Ile
NM_001282457.2:c.12G>A	NP_001269386.1:p.Arg4=
NM_001282458.2:c.430G>A	NP_001269387.1:p.Val144Ile
NM_001282459.2:c.517G>A	NP_001269388.1:p.Val173Ile
NM_001178063.3:c.148G>A	NP_001171534.1:p.Val50Ile