Canonical Allele Identifier: CA2338395724

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364061G= , CM000681.2:g.45364061G=	GRCh38
NC_000019.9:g.45867319G= , CM000681.1:g.45867319G=	GRCh37
NC_000019.8:g.50559159G=	NCBI36
NG_007067.2:g.11527C= , LRG_461:g.11527C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.874C=	ENSP00000375808.4:p.Leu292=
ENST00000682414.1:c.874C=	ENSP00000507019.1:p.Leu292=
ENST00000682508.1:n.903C=
ENST00000684218.1:c.*132C=	ENSP00000507804.1:n.*132C=
ENST00000684407.1:c.751C=	ENSP00000507775.1:p.Leu251=
ENST00000684458.1:c.874C=	ENSP00000508260.1:p.Leu292=
ENST00000391945.10:c.874C= MANE Select	ENSP00000375809.4:p.Leu292=
ENST00000586131.6:c.802C=	ENSP00000464887.1:p.Leu268=
ENST00000646507.1:n.971C=
ENST00000391941.6:c.802C=	ENSP00000375805.2:p.Leu268=
ENST00000391944.7:c.640C=	ENSP00000375808.3:p.Leu214=
ENST00000391945.8:c.874C=	ENSP00000375809.3:p.Leu292=
ENST00000485403.6:c.802C=	ENSP00000431229.2:p.Leu268=
ENST00000586131.5:c.802C=	ENSP00000464887.1:p.Leu268=
ENST00000591309.5:c.*132C=	ENSP00000465207.1:n.*132C=
NM_000400.3:c.874C= , LRG_461t1:c.874C=	NP_000391.1:p.Leu292=
NM_001130867.1:c.802C=	NP_001124339.1:p.Leu268=
XM_011526611.1:c.796C=	XP_011524913.1:p.Leu266=
XR_935763.1:n.921C=
XM_011526611.2:c.796C=	XP_011524913.1:p.Leu266=
XM_017026467.1:c.751C=	XP_016881956.1:p.Leu251=
XR_001753633.2:n.921C=
XR_001753634.2:n.921C=
NM_000400.4:c.874C= MANE Select	NP_000391.1:p.Leu292=
NM_001130867.2:c.802C=	NP_001124339.1:p.Leu268=