Canonical Allele Identifier: CA2338388895

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352560C= , CM000681.2:g.45352560C=	GRCh38
NC_000019.9:g.45855818C= , CM000681.1:g.45855818C=	GRCh37
NC_000019.8:g.50547658C=	NCBI36
NG_007067.2:g.23028G= , LRG_461:g.23028G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1992G=	ENSP00000375808.4:p.Val664=
ENST00000682414.1:c.1992G=	ENSP00000507019.1:p.Val664=
ENST00000682508.1:n.2021G=
ENST00000684218.1:c.*1250G=	ENSP00000507804.1:n.*1250G=
ENST00000684264.1:n.1548G=
ENST00000684407.1:c.1869G=	ENSP00000507775.1:p.Val623=
ENST00000684458.1:c.*478G=	ENSP00000508260.1:n.*478G=
ENST00000684468.1:n.1704G=
ENST00000391945.10:c.1992G= MANE Select	ENSP00000375809.4:p.Val664=
ENST00000646507.1:n.2089G=
ENST00000391941.6:c.1920G=	ENSP00000375805.2:p.Val640=
ENST00000391942.6:n.1163G=
ENST00000391944.7:c.1758G=	ENSP00000375808.3:p.Val586=
ENST00000391945.8:c.1992G=	ENSP00000375809.3:p.Val664=
ENST00000588652.5:n.2080G=
NM_000400.3:c.1992G= , LRG_461t1:c.1992G=	NP_000391.1:p.Val664=
XM_011526611.1:c.1914G=	XP_011524913.1:p.Val638=
XM_011526611.2:c.1914G=	XP_011524913.1:p.Val638=
XM_017026467.1:c.1869G=	XP_016881956.1:p.Val623=
XR_001753633.2:n.2039G=
XR_001753634.2:n.1975G=
NM_000400.4:c.1992G= MANE Select	NP_000391.1:p.Val664=