Canonical Allele Identifier: CA2338389036

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352781C= , CM000681.2:g.45352781C=	GRCh38
NC_000019.9:g.45856039C= , CM000681.1:g.45856039C=	GRCh37
NC_000019.8:g.50547879C=	NCBI36
NG_007067.2:g.22807G= , LRG_461:g.22807G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1867G=	ENSP00000375808.4:p.Val623=
ENST00000682414.1:c.1867G=	ENSP00000507019.1:p.Val623=
ENST00000682508.1:n.1896G=
ENST00000684218.1:c.*1125G=	ENSP00000507804.1:n.*1125G=
ENST00000684264.1:n.1423G=
ENST00000684407.1:c.1744G=	ENSP00000507775.1:p.Val582=
ENST00000684458.1:c.*353G=	ENSP00000508260.1:n.*353G=
ENST00000684468.1:n.1579G=
ENST00000391945.10:c.1867G= MANE Select	ENSP00000375809.4:p.Val623=
ENST00000646507.1:n.1964G=
ENST00000391941.6:c.1795G=	ENSP00000375805.2:p.Val599=
ENST00000391942.6:n.1038G=
ENST00000391944.7:c.1633G=	ENSP00000375808.3:p.Val545=
ENST00000391945.8:c.1867G=	ENSP00000375809.3:p.Val623=
ENST00000588652.5:n.1955G=
NM_000400.3:c.1867G= , LRG_461t1:c.1867G=	NP_000391.1:p.Val623=
XM_011526611.1:c.1789G=	XP_011524913.1:p.Val597=
XM_011526611.2:c.1789G=	XP_011524913.1:p.Val597=
XM_017026467.1:c.1744G=	XP_016881956.1:p.Val582=
XR_001753633.2:n.1914G=
XR_001753634.2:n.1850G=
NM_000400.4:c.1867G= MANE Select	NP_000391.1:p.Val623=