Canonical Allele Identifier: CA2338391749

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45357369T= , CM000681.2:g.45357369T=	GRCh38
NC_000019.9:g.45860627T= , CM000681.1:g.45860627T=	GRCh37
NC_000019.8:g.50552467T=	NCBI36
NG_007067.2:g.18219A= , LRG_461:g.18219A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1380A=	ENSP00000375808.4:p.Thr460=
ENST00000682414.1:c.1380A=	ENSP00000507019.1:p.Thr460=
ENST00000682508.1:n.1409A=
ENST00000684218.1:c.*638A=	ENSP00000507804.1:n.*638A=
ENST00000684264.1:n.936A=
ENST00000684407.1:c.1257A=	ENSP00000507775.1:p.Thr419=
ENST00000684458.1:c.1310A=	ENSP00000508260.1:p.His437=
ENST00000684468.1:n.1156A=
ENST00000391945.10:c.1380A= MANE Select	ENSP00000375809.4:p.Thr460=
ENST00000587376.6:c.503A=
ENST00000646507.1:n.1477A=
ENST00000391941.6:c.1308A=	ENSP00000375805.2:p.Thr436=
ENST00000391942.6:n.551A=
ENST00000391944.7:c.1146A=	ENSP00000375808.3:p.Thr382=
ENST00000391945.8:c.1380A=	ENSP00000375809.3:p.Thr460=
ENST00000587376.5:c.503A=
ENST00000588652.5:n.1468A=
NM_000400.3:c.1380A= , LRG_461t1:c.1380A=	NP_000391.1:p.Thr460=
XM_011526611.1:c.1302A=	XP_011524913.1:p.Thr434=
XR_935763.1:n.1427A=
XM_011526611.2:c.1302A=	XP_011524913.1:p.Thr434=
XM_017026467.1:c.1257A=	XP_016881956.1:p.Thr419=
XR_001753633.2:n.1427A=
XR_001753634.2:n.1427A=
NM_000400.4:c.1380A= MANE Select	NP_000391.1:p.Thr460=