Canonical Allele Identifier: CA2338388932

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352623C= , CM000681.2:g.45352623C=	GRCh38
NC_000019.9:g.45855881C= , CM000681.1:g.45855881C=	GRCh37
NC_000019.8:g.50547721C=	NCBI36
NG_007067.2:g.22965G= , LRG_461:g.22965G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1929G=	ENSP00000375808.4:p.Gln643=
ENST00000682414.1:c.1929G=	ENSP00000507019.1:p.Gln643=
ENST00000682508.1:n.1958G=
ENST00000684218.1:c.*1187G=	ENSP00000507804.1:n.*1187G=
ENST00000684264.1:n.1485G=
ENST00000684407.1:c.1806G=	ENSP00000507775.1:p.Gln602=
ENST00000684458.1:c.*415G=	ENSP00000508260.1:n.*415G=
ENST00000684468.1:n.1641G=
ENST00000391945.10:c.1929G= MANE Select	ENSP00000375809.4:p.Gln643=
ENST00000646507.1:n.2026G=
ENST00000391941.6:c.1857G=	ENSP00000375805.2:p.Gln619=
ENST00000391942.6:n.1100G=
ENST00000391944.7:c.1695G=	ENSP00000375808.3:p.Gln565=
ENST00000391945.8:c.1929G=	ENSP00000375809.3:p.Gln643=
ENST00000588652.5:n.2017G=
NM_000400.3:c.1929G= , LRG_461t1:c.1929G=	NP_000391.1:p.Gln643=
XM_011526611.1:c.1851G=	XP_011524913.1:p.Gln617=
XM_011526611.2:c.1851G=	XP_011524913.1:p.Gln617=
XM_017026467.1:c.1806G=	XP_016881956.1:p.Gln602=
XR_001753633.2:n.1976G=
XR_001753634.2:n.1912G=
NM_000400.4:c.1929G= MANE Select	NP_000391.1:p.Gln643=