Canonical Allele Identifier: CA2338395693

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364004G= , CM000681.2:g.45364004G=	GRCh38
NC_000019.9:g.45867262G= , CM000681.1:g.45867262G=	GRCh37
NC_000019.8:g.50559102G=	NCBI36
NG_007067.2:g.11584C= , LRG_461:g.11584C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.931C=	ENSP00000375808.4:p.Pro311=
ENST00000682414.1:c.931C=	ENSP00000507019.1:p.Pro311=
ENST00000682508.1:n.960C=
ENST00000684218.1:c.*189C=	ENSP00000507804.1:n.*189C=
ENST00000684407.1:c.808C=	ENSP00000507775.1:p.Pro270=
ENST00000684458.1:c.931C=	ENSP00000508260.1:p.Pro311=
ENST00000391945.10:c.931C= MANE Select	ENSP00000375809.4:p.Pro311=
ENST00000586131.6:c.859C=	ENSP00000464887.1:p.Pro287=
ENST00000587376.6:c.54C=
ENST00000646507.1:n.1028C=
ENST00000391941.6:c.859C=	ENSP00000375805.2:p.Pro287=
ENST00000391944.7:c.697C=	ENSP00000375808.3:p.Pro233=
ENST00000391945.8:c.931C=	ENSP00000375809.3:p.Pro311=
ENST00000485403.6:c.859C=	ENSP00000431229.2:p.Pro287=
ENST00000586131.5:c.859C=	ENSP00000464887.1:p.Pro287=
ENST00000587376.5:c.54C=
NM_000400.3:c.931C= , LRG_461t1:c.931C=	NP_000391.1:p.Pro311=
NM_001130867.1:c.859C=	NP_001124339.1:p.Pro287=
XM_011526611.1:c.853C=	XP_011524913.1:p.Pro285=
XR_935763.1:n.978C=
XM_011526611.2:c.853C=	XP_011524913.1:p.Pro285=
XM_017026467.1:c.808C=	XP_016881956.1:p.Pro270=
XR_001753633.2:n.978C=
XR_001753634.2:n.978C=
NM_000400.4:c.931C= MANE Select	NP_000391.1:p.Pro311=
NM_001130867.2:c.859C=	NP_001124339.1:p.Pro287=