Canonical Allele Identifier: CA2338388685

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352236C= , CM000681.2:g.45352236C=	GRCh38
NC_000019.9:g.45855494C= , CM000681.1:g.45855494C=	GRCh37
NC_000019.8:g.50547334C=	NCBI36
NG_007067.2:g.23352G= , LRG_461:g.23352G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2163G=	ENSP00000375808.4:p.Leu721=
ENST00000682414.1:c.2163G=	ENSP00000507019.1:p.Leu721=
ENST00000682508.1:n.2192G=
ENST00000684218.1:c.*1421G=	ENSP00000507804.1:n.*1421G=
ENST00000684264.1:n.1719G=
ENST00000684407.1:c.2040G=	ENSP00000507775.1:p.Leu680=
ENST00000684458.1:c.*649G=	ENSP00000508260.1:n.*649G=
ENST00000684468.1:n.1875G=
ENST00000391945.10:c.2163G= MANE Select	ENSP00000375809.4:p.Leu721=
ENST00000646507.1:n.2260G=
ENST00000391941.6:c.2091G=	ENSP00000375805.2:p.Leu697=
ENST00000391942.6:n.1334G=
ENST00000391944.7:c.1929G=	ENSP00000375808.3:p.Leu643=
ENST00000391945.8:c.2163G=	ENSP00000375809.3:p.Leu721=
ENST00000588652.5:n.2251G=
NM_000400.3:c.2163G= , LRG_461t1:c.2163G=	NP_000391.1:p.Leu721=
XM_011526611.1:c.2085G=	XP_011524913.1:p.Leu695=
XM_011526611.2:c.2085G=	XP_011524913.1:p.Leu695=
XM_017026467.1:c.2040G=	XP_016881956.1:p.Leu680=
XR_001753633.2:n.2210G=
XR_001753634.2:n.2146G=
NM_000400.4:c.2163G= MANE Select	NP_000391.1:p.Leu721=