Canonical Allele Identifier: CA2338388684

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352235G= , CM000681.2:g.45352235G=	GRCh38
NC_000019.9:g.45855493G= , CM000681.1:g.45855493G=	GRCh37
NC_000019.8:g.50547333G=	NCBI36
NG_007067.2:g.23353C= , LRG_461:g.23353C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2164C=	ENSP00000375808.4:p.Arg722=
ENST00000682414.1:c.2164C=	ENSP00000507019.1:p.Arg722=
ENST00000682508.1:n.2193C=
ENST00000684218.1:c.*1422C=	ENSP00000507804.1:n.*1422C=
ENST00000684264.1:n.1720C=
ENST00000684407.1:c.2041C=	ENSP00000507775.1:p.Arg681=
ENST00000684458.1:c.*650C=	ENSP00000508260.1:n.*650C=
ENST00000684468.1:n.1876C=
ENST00000391945.10:c.2164C= MANE Select	ENSP00000375809.4:p.Arg722=
ENST00000646507.1:n.2261C=
ENST00000391941.6:c.2092C=	ENSP00000375805.2:p.Arg698=
ENST00000391942.6:n.1335C=
ENST00000391944.7:c.1930C=	ENSP00000375808.3:p.Arg644=
ENST00000391945.8:c.2164C=	ENSP00000375809.3:p.Arg722=
ENST00000588652.5:n.2252C=
NM_000400.3:c.2164C= , LRG_461t1:c.2164C=	NP_000391.1:p.Arg722=
XM_011526611.1:c.2086C=	XP_011524913.1:p.Arg696=
XM_011526611.2:c.2086C=	XP_011524913.1:p.Arg696=
XM_017026467.1:c.2041C=	XP_016881956.1:p.Arg681=
XR_001753633.2:n.2211C=
XR_001753634.2:n.2147C=
NM_000400.4:c.2164C= MANE Select	NP_000391.1:p.Arg722=