Canonical Allele Identifier: CA2338388866

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352512G= , CM000681.2:g.45352512G=	GRCh38
NC_000019.9:g.45855770G= , CM000681.1:g.45855770G=	GRCh37
NC_000019.8:g.50547610G=	NCBI36
NG_007067.2:g.23076C= , LRG_461:g.23076C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2040C=	ENSP00000375808.4:p.Ala680=
ENST00000682414.1:c.2040C=	ENSP00000507019.1:p.Ala680=
ENST00000682508.1:n.2069C=
ENST00000684218.1:c.*1298C=	ENSP00000507804.1:n.*1298C=
ENST00000684264.1:n.1596C=
ENST00000684407.1:c.1917C=	ENSP00000507775.1:p.Ala639=
ENST00000684458.1:c.*526C=	ENSP00000508260.1:n.*526C=
ENST00000684468.1:n.1752C=
ENST00000391945.10:c.2040C= MANE Select	ENSP00000375809.4:p.Ala680=
ENST00000646507.1:n.2137C=
ENST00000391941.6:c.1968C=	ENSP00000375805.2:p.Ala656=
ENST00000391942.6:n.1211C=
ENST00000391944.7:c.1806C=	ENSP00000375808.3:p.Ala602=
ENST00000391945.8:c.2040C=	ENSP00000375809.3:p.Ala680=
ENST00000588652.5:n.2128C=
NM_000400.3:c.2040C= , LRG_461t1:c.2040C=	NP_000391.1:p.Ala680=
XM_011526611.1:c.1962C=	XP_011524913.1:p.Ala654=
XM_011526611.2:c.1962C=	XP_011524913.1:p.Ala654=
XM_017026467.1:c.1917C=	XP_016881956.1:p.Ala639=
XR_001753633.2:n.2087C=
XR_001753634.2:n.2023C=
NM_000400.4:c.2040C= MANE Select	NP_000391.1:p.Ala680=