Canonical Allele Identifier: CA2338395736

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364078C= , CM000681.2:g.45364078C=	GRCh38
NC_000019.9:g.45867336C= , CM000681.1:g.45867336C=	GRCh37
NC_000019.8:g.50559176C=	NCBI36
NG_007067.2:g.11510G= , LRG_461:g.11510G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.857G=	ENSP00000375808.4:p.Arg286=
ENST00000682414.1:c.857G=	ENSP00000507019.1:p.Arg286=
ENST00000682508.1:n.886G=
ENST00000684218.1:c.*115G=	ENSP00000507804.1:n.*115G=
ENST00000684407.1:c.734G=	ENSP00000507775.1:p.Arg245=
ENST00000684458.1:c.857G=	ENSP00000508260.1:p.Arg286=
ENST00000391945.10:c.857G= MANE Select	ENSP00000375809.4:p.Arg286=
ENST00000586131.6:c.785G=	ENSP00000464887.1:p.Arg262=
ENST00000646507.1:n.954G=
ENST00000391941.6:c.785G=	ENSP00000375805.2:p.Arg262=
ENST00000391944.7:c.623G=	ENSP00000375808.3:p.Arg208=
ENST00000391945.8:c.857G=	ENSP00000375809.3:p.Arg286=
ENST00000485403.6:c.785G=	ENSP00000431229.2:p.Arg262=
ENST00000586131.5:c.785G=	ENSP00000464887.1:p.Arg262=
ENST00000591309.5:c.*115G=	ENSP00000465207.1:n.*115G=
NM_000400.3:c.857G= , LRG_461t1:c.857G=	NP_000391.1:p.Arg286=
NM_001130867.1:c.785G=	NP_001124339.1:p.Arg262=
XM_011526611.1:c.779G=	XP_011524913.1:p.Arg260=
XR_935763.1:n.904G=
XM_011526611.2:c.779G=	XP_011524913.1:p.Arg260=
XM_017026467.1:c.734G=	XP_016881956.1:p.Arg245=
XR_001753633.2:n.904G=
XR_001753634.2:n.904G=
NM_000400.4:c.857G= MANE Select	NP_000391.1:p.Arg286=
NM_001130867.2:c.785G=	NP_001124339.1:p.Arg262=