Canonical Allele Identifier: CA2338395692

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364003G= , CM000681.2:g.45364003G=	GRCh38
NC_000019.9:g.45867261G= , CM000681.1:g.45867261G=	GRCh37
NC_000019.8:g.50559101G=	NCBI36
NG_007067.2:g.11585C= , LRG_461:g.11585C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.932C=	ENSP00000375808.4:p.Pro311=
ENST00000682414.1:c.932C=	ENSP00000507019.1:p.Pro311=
ENST00000682508.1:n.961C=
ENST00000684218.1:c.*190C=	ENSP00000507804.1:n.*190C=
ENST00000684407.1:c.809C=	ENSP00000507775.1:p.Pro270=
ENST00000684458.1:c.932C=	ENSP00000508260.1:p.Pro311=
ENST00000391945.10:c.932C= MANE Select	ENSP00000375809.4:p.Pro311=
ENST00000586131.6:c.860C=	ENSP00000464887.1:p.Pro287=
ENST00000587376.6:c.55C=
ENST00000646507.1:n.1029C=
ENST00000391941.6:c.860C=	ENSP00000375805.2:p.Pro287=
ENST00000391944.7:c.698C=	ENSP00000375808.3:p.Pro233=
ENST00000391945.8:c.932C=	ENSP00000375809.3:p.Pro311=
ENST00000485403.6:c.860C=	ENSP00000431229.2:p.Pro287=
ENST00000586131.5:c.860C=	ENSP00000464887.1:p.Pro287=
ENST00000587376.5:c.55C=
NM_000400.3:c.932C= , LRG_461t1:c.932C=	NP_000391.1:p.Pro311=
NM_001130867.1:c.860C=	NP_001124339.1:p.Pro287=
XM_011526611.1:c.854C=	XP_011524913.1:p.Pro285=
XR_935763.1:n.979C=
XM_011526611.2:c.854C=	XP_011524913.1:p.Pro285=
XM_017026467.1:c.809C=	XP_016881956.1:p.Pro270=
XR_001753633.2:n.979C=
XR_001753634.2:n.979C=
NM_000400.4:c.932C= MANE Select	NP_000391.1:p.Pro311=
NM_001130867.2:c.860C=	NP_001124339.1:p.Pro287=