Canonical Allele Identifier: CA2338388927

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352610C= , CM000681.2:g.45352610C=	GRCh38
NC_000019.9:g.45855868C= , CM000681.1:g.45855868C=	GRCh37
NC_000019.8:g.50547708C=	NCBI36
NG_007067.2:g.22978G= , LRG_461:g.22978G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1942G=	ENSP00000375808.4:p.Glu648=
ENST00000682414.1:c.1942G=	ENSP00000507019.1:p.Glu648=
ENST00000682508.1:n.1971G=
ENST00000684218.1:c.*1200G=	ENSP00000507804.1:n.*1200G=
ENST00000684264.1:n.1498G=
ENST00000684407.1:c.1819G=	ENSP00000507775.1:p.Glu607=
ENST00000684458.1:c.*428G=	ENSP00000508260.1:n.*428G=
ENST00000684468.1:n.1654G=
ENST00000391945.10:c.1942G= MANE Select	ENSP00000375809.4:p.Glu648=
ENST00000646507.1:n.2039G=
ENST00000391941.6:c.1870G=	ENSP00000375805.2:p.Glu624=
ENST00000391942.6:n.1113G=
ENST00000391944.7:c.1708G=	ENSP00000375808.3:p.Glu570=
ENST00000391945.8:c.1942G=	ENSP00000375809.3:p.Glu648=
ENST00000588652.5:n.2030G=
NM_000400.3:c.1942G= , LRG_461t1:c.1942G=	NP_000391.1:p.Glu648=
XM_011526611.1:c.1864G=	XP_011524913.1:p.Glu622=
XM_011526611.2:c.1864G=	XP_011524913.1:p.Glu622=
XM_017026467.1:c.1819G=	XP_016881956.1:p.Glu607=
XR_001753633.2:n.1989G=
XR_001753634.2:n.1925G=
NM_000400.4:c.1942G= MANE Select	NP_000391.1:p.Glu648=