Canonical Allele Identifier: CA2338388721

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352277G= , CM000681.2:g.45352277G=	GRCh38
NC_000019.9:g.45855535G= , CM000681.1:g.45855535G=	GRCh37
NC_000019.8:g.50547375G=	NCBI36
NG_007067.2:g.23311C= , LRG_461:g.23311C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.2122C=	ENSP00000375808.4:p.Leu708=
ENST00000682414.1:c.2122C=	ENSP00000507019.1:p.Leu708=
ENST00000682508.1:n.2151C=
ENST00000684218.1:c.*1380C=	ENSP00000507804.1:n.*1380C=
ENST00000684264.1:n.1678C=
ENST00000684407.1:c.1999C=	ENSP00000507775.1:p.Leu667=
ENST00000684458.1:c.*608C=	ENSP00000508260.1:n.*608C=
ENST00000684468.1:n.1834C=
ENST00000391945.10:c.2122C= MANE Select	ENSP00000375809.4:p.Leu708=
ENST00000646507.1:n.2219C=
ENST00000391941.6:c.2050C=	ENSP00000375805.2:p.Leu684=
ENST00000391942.6:n.1293C=
ENST00000391944.7:c.1888C=	ENSP00000375808.3:p.Leu630=
ENST00000391945.8:c.2122C=	ENSP00000375809.3:p.Leu708=
ENST00000588652.5:n.2210C=
NM_000400.3:c.2122C= , LRG_461t1:c.2122C=	NP_000391.1:p.Leu708=
XM_011526611.1:c.2044C=	XP_011524913.1:p.Leu682=
XM_011526611.2:c.2044C=	XP_011524913.1:p.Leu682=
XM_017026467.1:c.1999C=	XP_016881956.1:p.Leu667=
XR_001753633.2:n.2169C=
XR_001753634.2:n.2105C=
NM_000400.4:c.2122C= MANE Select	NP_000391.1:p.Leu708=