Canonical Allele Identifier: CA3727746

Gene: C2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31943653A>G , CM000668.2:g.31943653A>G	GRCh38
NC_000006.11:g.31911430A>G , CM000668.1:g.31911430A>G	GRCh37
NC_000006.10:g.32019409A>G	NCBI36
NG_008191.1:g.2710A>G , LRG_136:g.2710A>G
NG_011730.1:g.21165A>G , LRG_26:g.21165A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000063.6:c.1577A>G MANE Select	NP_000054.2:p.Lys526Arg
ENST00000299367.10:c.1577A>G MANE Select	ENSP00000299367.5:p.Lys526Arg
NM_000063.5:c.1577A>G	NP_000054.2:p.Lys526Arg
NM_001145903.2:c.1181A>G	NP_001139375.1:p.Lys394Arg
NM_001145903.3:c.1181A>G	NP_001139375.1:p.Lys394Arg
NM_001178063.2:c.935A>G	NP_001171534.1:p.Lys312Arg
NM_001178063.3:c.935A>G	NP_001171534.1:p.Lys312Arg
NM_001282457.1:c.839A>G	NP_001269386.1:p.Lys280Arg
NM_001282457.2:c.839A>G	NP_001269386.1:p.Lys280Arg
NM_001282458.1:c.1490A>G	NP_001269387.1:p.Lys497Arg
NM_001282458.2:c.1490A>G	NP_001269387.1:p.Lys497Arg
ENST00000299367.9:c.1577A>G	ENSP00000299367.5:p.Lys526Arg
ENST00000383177.7:c.898A>G
ENST00000442278.6:c.1181A>G	ENSP00000395683.2:p.Lys394Arg
ENST00000447952.7:c.1391A>G	ENSP00000391354.3:p.Lys464Arg
ENST00000452323.6:c.935A>G	ENSP00000392322.2:p.Lys312Arg
ENST00000452323.7:c.935A>G	ENSP00000392322.2:p.Lys312Arg
ENST00000456570.5:c.1118A>G	ENSP00000410815.1:p.Lys373Arg
ENST00000468407.2:c.1577A>G	ENSP00000512075.1:p.Lys526Arg
ENST00000469372.5:c.839A>G	ENSP00000418923.1:p.Lys280Arg
ENST00000477310.1:c.890A>G	ENSP00000418996.1:p.Lys297Arg
ENST00000482060.5:c.*1290A>G	ENSP00000418332.1:n.*1290A>G
ENST00000485690.5:c.789A>G
ENST00000486124.5:n.1853A>G
ENST00000497706.5:c.938A>G	ENSP00000417482.1:p.Lys313Arg
ENST00000497706.6:c.938A>G	ENSP00000417482.2:p.Lys313Arg
ENST00000695637.1:c.1172A>G	ENSP00000512074.1:p.Lys391Arg
ENST00000695638.1:c.1577A>G	ENSP00000512076.1:p.Lys526Arg
ENST00000695644.1:c.1181A>G	ENSP00000512079.1:p.Lys394Arg