Canonical Allele Identifier: CA2338388665

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352209C= , CM000681.2:g.45352209C=	GRCh38
NC_000019.9:g.45855467C= , CM000681.1:g.45855467C=	GRCh37
NC_000019.8:g.50547307C=	NCBI36
NG_007067.2:g.23379G= , LRG_461:g.23379G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2190G=	ENSP00000375808.4:p.Arg730=
ENST00000682414.1:c.2190G=	ENSP00000507019.1:p.Arg730=
ENST00000682508.1:n.2219G=
ENST00000684218.1:c.*1448G=	ENSP00000507804.1:n.*1448G=
ENST00000684264.1:n.1746G=
ENST00000684407.1:c.2067G=	ENSP00000507775.1:p.Arg689=
ENST00000684458.1:c.*676G=	ENSP00000508260.1:n.*676G=
ENST00000684468.1:n.1902G=
ENST00000391945.10:c.2190G= MANE Select	ENSP00000375809.4:p.Arg730=
ENST00000646507.1:n.2287G=
ENST00000391941.6:c.2118G=	ENSP00000375805.2:p.Arg706=
ENST00000391942.6:n.1361G=
ENST00000391944.7:c.1956G=	ENSP00000375808.3:p.Arg652=
ENST00000391945.8:c.2190G=	ENSP00000375809.3:p.Arg730=
ENST00000588652.5:n.2278G=
NM_000400.3:c.2190G= , LRG_461t1:c.2190G=	NP_000391.1:p.Arg730=
XM_011526611.1:c.2112G=	XP_011524913.1:p.Arg704=
XM_011526611.2:c.2112G=	XP_011524913.1:p.Arg704=
XM_017026467.1:c.2067G=	XP_016881956.1:p.Arg689=
XR_001753633.2:n.2237G=
XR_001753634.2:n.2173G=
NM_000400.4:c.2190G= MANE Select	NP_000391.1:p.Arg730=