Canonical Allele Identifier: CA2338388696

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352249G= , CM000681.2:g.45352249G=	GRCh38
NC_000019.9:g.45855507G= , CM000681.1:g.45855507G=	GRCh37
NC_000019.8:g.50547347G=	NCBI36
NG_007067.2:g.23339C= , LRG_461:g.23339C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2150C=	ENSP00000375808.4:p.Ala717=
ENST00000682414.1:c.2150C=	ENSP00000507019.1:p.Ala717=
ENST00000682508.1:n.2179C=
ENST00000684218.1:c.*1408C=	ENSP00000507804.1:n.*1408C=
ENST00000684264.1:n.1706C=
ENST00000684407.1:c.2027C=	ENSP00000507775.1:p.Ala676=
ENST00000684458.1:c.*636C=	ENSP00000508260.1:n.*636C=
ENST00000684468.1:n.1862C=
ENST00000391945.10:c.2150C= MANE Select	ENSP00000375809.4:p.Ala717=
ENST00000646507.1:n.2247C=
ENST00000391941.6:c.2078C=	ENSP00000375805.2:p.Ala693=
ENST00000391942.6:n.1321C=
ENST00000391944.7:c.1916C=	ENSP00000375808.3:p.Ala639=
ENST00000391945.8:c.2150C=	ENSP00000375809.3:p.Ala717=
ENST00000588652.5:n.2238C=
NM_000400.3:c.2150C= , LRG_461t1:c.2150C=	NP_000391.1:p.Ala717=
XM_011526611.1:c.2072C=	XP_011524913.1:p.Ala691=
XM_011526611.2:c.2072C=	XP_011524913.1:p.Ala691=
XM_017026467.1:c.2027C=	XP_016881956.1:p.Ala676=
XR_001753633.2:n.2197C=
XR_001753634.2:n.2133C=
NM_000400.4:c.2150C= MANE Select	NP_000391.1:p.Ala717=