Canonical Allele Identifier: CA2338395716

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45364045G= , CM000681.2:g.45364045G=	GRCh38
NC_000019.9:g.45867303G= , CM000681.1:g.45867303G=	GRCh37
NC_000019.8:g.50559143G=	NCBI36
NG_007067.2:g.11543C= , LRG_461:g.11543C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.890C=	ENSP00000375808.4:p.Ala297=
ENST00000682414.1:c.890C=	ENSP00000507019.1:p.Ala297=
ENST00000682508.1:n.919C=
ENST00000684218.1:c.*148C=	ENSP00000507804.1:n.*148C=
ENST00000684407.1:c.767C=	ENSP00000507775.1:p.Ala256=
ENST00000684458.1:c.890C=	ENSP00000508260.1:p.Ala297=
ENST00000391945.10:c.890C= MANE Select	ENSP00000375809.4:p.Ala297=
ENST00000586131.6:c.818C=	ENSP00000464887.1:p.Ala273=
ENST00000587376.6:c.13C=
ENST00000646507.1:n.987C=
ENST00000391941.6:c.818C=	ENSP00000375805.2:p.Ala273=
ENST00000391944.7:c.656C=	ENSP00000375808.3:p.Ala219=
ENST00000391945.8:c.890C=	ENSP00000375809.3:p.Ala297=
ENST00000485403.6:c.818C=	ENSP00000431229.2:p.Ala273=
ENST00000586131.5:c.818C=	ENSP00000464887.1:p.Ala273=
ENST00000587376.5:c.13C=
ENST00000591309.5:c.*148C=	ENSP00000465207.1:n.*148C=
NM_000400.3:c.890C= , LRG_461t1:c.890C=	NP_000391.1:p.Ala297=
NM_001130867.1:c.818C=	NP_001124339.1:p.Ala273=
XM_011526611.1:c.812C=	XP_011524913.1:p.Ala271=
XR_935763.1:n.937C=
XM_011526611.2:c.812C=	XP_011524913.1:p.Ala271=
XM_017026467.1:c.767C=	XP_016881956.1:p.Ala256=
XR_001753633.2:n.937C=
XR_001753634.2:n.937C=
NM_000400.4:c.890C= MANE Select	NP_000391.1:p.Ala297=
NM_001130867.2:c.818C=	NP_001124339.1:p.Ala273=