Canonical Allele Identifier: CA2338388735

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352305C= , CM000681.2:g.45352305C=	GRCh38
NC_000019.9:g.45855563C= , CM000681.1:g.45855563C=	GRCh37
NC_000019.8:g.50547403C=	NCBI36
NG_007067.2:g.23283G= , LRG_461:g.23283G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2094G=	ENSP00000375808.4:p.Gln698=
ENST00000682414.1:c.2094G=	ENSP00000507019.1:p.Gln698=
ENST00000682508.1:n.2123G=
ENST00000684218.1:c.*1352G=	ENSP00000507804.1:n.*1352G=
ENST00000684264.1:n.1650G=
ENST00000684407.1:c.1971G=	ENSP00000507775.1:p.Gln657=
ENST00000684458.1:c.*580G=	ENSP00000508260.1:n.*580G=
ENST00000684468.1:n.1806G=
ENST00000391945.10:c.2094G= MANE Select	ENSP00000375809.4:p.Gln698=
ENST00000646507.1:n.2191G=
ENST00000391941.6:c.2022G=	ENSP00000375805.2:p.Gln674=
ENST00000391942.6:n.1265G=
ENST00000391944.7:c.1860G=	ENSP00000375808.3:p.Gln620=
ENST00000391945.8:c.2094G=	ENSP00000375809.3:p.Gln698=
ENST00000588652.5:n.2182G=
NM_000400.3:c.2094G= , LRG_461t1:c.2094G=	NP_000391.1:p.Gln698=
XM_011526611.1:c.2016G=	XP_011524913.1:p.Gln672=
XM_011526611.2:c.2016G=	XP_011524913.1:p.Gln672=
XM_017026467.1:c.1971G=	XP_016881956.1:p.Gln657=
XR_001753633.2:n.2141G=
XR_001753634.2:n.2077G=
NM_000400.4:c.2094G= MANE Select	NP_000391.1:p.Gln698=