Canonical Allele Identifier: CA2338388185

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45351632G= , CM000681.2:g.45351632G=	GRCh38
NC_000019.9:g.45854890G= , CM000681.1:g.45854890G=	GRCh37
NC_000019.8:g.50546730G=	NCBI36
NG_007067.2:g.23956C= , LRG_461:g.23956C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.*277C=	ENSP00000375808.4:n.*277C=
ENST00000682414.1:c.2280C=	ENSP00000507019.1:p.Leu760=
ENST00000682508.1:n.2309C=
ENST00000684218.1:c.*1538C=	ENSP00000507804.1:n.*1538C=
ENST00000684264.1:n.1836C=
ENST00000684407.1:c.2157C=	ENSP00000507775.1:p.Leu719=
ENST00000684458.1:c.*766C=	ENSP00000508260.1:n.*766C=
ENST00000684468.1:n.1992C=
ENST00000391945.10:c.2280C= MANE Select	ENSP00000375809.4:p.Leu760=
ENST00000646507.1:n.2377C=
ENST00000391942.6:n.1451C=
ENST00000391944.7:c.2046C=	ENSP00000375808.3:p.Leu682=
ENST00000391945.8:c.2280C=	ENSP00000375809.3:p.Leu760=
ENST00000588652.5:n.2368C=
NM_000400.3:c.2280C= , LRG_461t1:c.2280C=	NP_000391.1:p.Leu760=
XM_011526611.1:c.2202C=	XP_011524913.1:p.Leu734=
XM_011526611.2:c.2202C=	XP_011524913.1:p.Leu734=
XM_017026467.1:c.2157C=	XP_016881956.1:p.Leu719=
XR_001753633.2:n.2327C=
NM_000400.4:c.2280C= MANE Select	NP_000391.1:p.Leu760=