Canonical Allele Identifier: CA3727503

Gene: C2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31934178G>A , CM000668.2:g.31934178G>A	GRCh38
NC_000006.11:g.31901955G>A , CM000668.1:g.31901955G>A	GRCh37
NC_000006.10:g.32009934G>A	NCBI36
NG_011730.1:g.11690G>A , LRG_26:g.11690G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000063.6:c.728G>A MANE Select	NP_000054.2:p.Arg243His
ENST00000299367.10:c.728G>A MANE Select	ENSP00000299367.5:p.Arg243His
NM_000063.5:c.728G>A	NP_000054.2:p.Arg243His
NM_001145903.2:c.332G>A	NP_001139375.1:p.Arg111His
NM_001145903.3:c.332G>A	NP_001139375.1:p.Arg111His
NM_001178063.2:c.346+213G>A	NP_001171534.1:n.346+213G>A
NM_001178063.3:c.346+213G>A	NP_001171534.1:n.346+213G>A
NM_001282457.1:c.111+395G>A	NP_001269386.1:n.111+395G>A
NM_001282457.2:c.111+395G>A	NP_001269386.1:n.111+395G>A
NM_001282458.1:c.641G>A	NP_001269387.1:p.Arg214His
NM_001282458.2:c.641G>A	NP_001269387.1:p.Arg214His
NM_001282459.1:c.728G>A	NP_001269388.1:p.Arg243His
NM_001282459.2:c.728G>A	NP_001269388.1:p.Arg243His
ENST00000299367.9:c.728G>A	ENSP00000299367.5:p.Arg243His
ENST00000383177.7:c.309+213G>A
ENST00000411571.6:c.223G>A	ENSP00000388727.2:p.Val75Ile
ENST00000418949.6:c.728G>A	ENSP00000406190.2:p.Arg243His
ENST00000442278.6:c.332G>A	ENSP00000395683.2:p.Arg111His
ENST00000447952.6:c.542G>A	ENSP00000391354.2:p.Arg181His
ENST00000447952.7:c.542G>A	ENSP00000391354.3:p.Arg181His
ENST00000452202.5:c.359G>A	ENSP00000406121.1:p.Arg120His
ENST00000452323.6:c.346+213G>A	ENSP00000392322.2:n.346+213G>A
ENST00000452323.7:c.346+213G>A	ENSP00000392322.2:n.346+213G>A
ENST00000456570.5:c.529+213G>A	ENSP00000410815.1:n.529+213G>A
ENST00000468407.2:c.728G>A	ENSP00000512075.1:p.Arg243His
ENST00000469372.5:c.111+395G>A	ENSP00000418923.1:n.111+395G>A
ENST00000477310.1:c.443-3141G>A	ENSP00000418996.1:n.443-3141G>A
ENST00000482060.5:c.*441G>A	ENSP00000418332.1:n.*441G>A
ENST00000484636.1:c.223G>A	ENSP00000420305.1:p.Val75Ile
ENST00000494905.1:c.305G>A	ENSP00000419048.1:p.Arg102His
ENST00000497706.5:c.210+213G>A	ENSP00000417482.1:n.210+213G>A
ENST00000497706.6:c.210+213G>A	ENSP00000417482.2:n.210+213G>A
ENST00000695637.1:c.323G>A	ENSP00000512074.1:p.Arg108His
ENST00000695638.1:c.728G>A	ENSP00000512076.1:p.Arg243His
ENST00000695644.1:c.332G>A	ENSP00000512079.1:p.Arg111His