Canonical Allele Identifier: CA2338388697

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352250C= , CM000681.2:g.45352250C=	GRCh38
NC_000019.9:g.45855508C= , CM000681.1:g.45855508C=	GRCh37
NC_000019.8:g.50547348C=	NCBI36
NG_007067.2:g.23338G= , LRG_461:g.23338G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2149G=	ENSP00000375808.4:p.Ala717=
ENST00000682414.1:c.2149G=	ENSP00000507019.1:p.Ala717=
ENST00000682508.1:n.2178G=
ENST00000684218.1:c.*1407G=	ENSP00000507804.1:n.*1407G=
ENST00000684264.1:n.1705G=
ENST00000684407.1:c.2026G=	ENSP00000507775.1:p.Ala676=
ENST00000684458.1:c.*635G=	ENSP00000508260.1:n.*635G=
ENST00000684468.1:n.1861G=
ENST00000391945.10:c.2149G= MANE Select	ENSP00000375809.4:p.Ala717=
ENST00000646507.1:n.2246G=
ENST00000391941.6:c.2077G=	ENSP00000375805.2:p.Ala693=
ENST00000391942.6:n.1320G=
ENST00000391944.7:c.1915G=	ENSP00000375808.3:p.Ala639=
ENST00000391945.8:c.2149G=	ENSP00000375809.3:p.Ala717=
ENST00000588652.5:n.2237G=
NM_000400.3:c.2149G= , LRG_461t1:c.2149G=	NP_000391.1:p.Ala717=
XM_011526611.1:c.2071G=	XP_011524913.1:p.Ala691=
XM_011526611.2:c.2071G=	XP_011524913.1:p.Ala691=
XM_017026467.1:c.2026G=	XP_016881956.1:p.Ala676=
XR_001753633.2:n.2196G=
XR_001753634.2:n.2132G=
NM_000400.4:c.2149G= MANE Select	NP_000391.1:p.Ala717=