Canonical Allele Identifier: CA2338388913

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352585G= , CM000681.2:g.45352585G=	GRCh38
NC_000019.9:g.45855843G= , CM000681.1:g.45855843G=	GRCh37
NC_000019.8:g.50547683G=	NCBI36
NG_007067.2:g.23003C= , LRG_461:g.23003C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1967C=	ENSP00000375808.4:p.Ala656=
ENST00000682414.1:c.1967C=	ENSP00000507019.1:p.Ala656=
ENST00000682508.1:n.1996C=
ENST00000684218.1:c.*1225C=	ENSP00000507804.1:n.*1225C=
ENST00000684264.1:n.1523C=
ENST00000684407.1:c.1844C=	ENSP00000507775.1:p.Ala615=
ENST00000684458.1:c.*453C=	ENSP00000508260.1:n.*453C=
ENST00000684468.1:n.1679C=
ENST00000391945.10:c.1967C= MANE Select	ENSP00000375809.4:p.Ala656=
ENST00000646507.1:n.2064C=
ENST00000391941.6:c.1895C=	ENSP00000375805.2:p.Ala632=
ENST00000391942.6:n.1138C=
ENST00000391944.7:c.1733C=	ENSP00000375808.3:p.Ala578=
ENST00000391945.8:c.1967C=	ENSP00000375809.3:p.Ala656=
ENST00000588652.5:n.2055C=
NM_000400.3:c.1967C= , LRG_461t1:c.1967C=	NP_000391.1:p.Ala656=
XM_011526611.1:c.1889C=	XP_011524913.1:p.Ala630=
XM_011526611.2:c.1889C=	XP_011524913.1:p.Ala630=
XM_017026467.1:c.1844C=	XP_016881956.1:p.Ala615=
XR_001753633.2:n.2014C=
XR_001753634.2:n.1950C=
NM_000400.4:c.1967C= MANE Select	NP_000391.1:p.Ala656=