Canonical Allele Identifier: CA2338388923

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352599A= , CM000681.2:g.45352599A=	GRCh38
NC_000019.9:g.45855857A= , CM000681.1:g.45855857A=	GRCh37
NC_000019.8:g.50547697A=	NCBI36
NG_007067.2:g.22989T= , LRG_461:g.22989T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391944.8:c.1953T=	ENSP00000375808.4:p.Phe651=
ENST00000682414.1:c.1953T=	ENSP00000507019.1:p.Phe651=
ENST00000682508.1:n.1982T=
ENST00000684218.1:c.*1211T=	ENSP00000507804.1:n.*1211T=
ENST00000684264.1:n.1509T=
ENST00000684407.1:c.1830T=	ENSP00000507775.1:p.Phe610=
ENST00000684458.1:c.*439T=	ENSP00000508260.1:n.*439T=
ENST00000684468.1:n.1665T=
ENST00000391945.10:c.1953T= MANE Select	ENSP00000375809.4:p.Phe651=
ENST00000646507.1:n.2050T=
ENST00000391941.6:c.1881T=	ENSP00000375805.2:p.Phe627=
ENST00000391942.6:n.1124T=
ENST00000391944.7:c.1719T=	ENSP00000375808.3:p.Phe573=
ENST00000391945.8:c.1953T=	ENSP00000375809.3:p.Phe651=
ENST00000588652.5:n.2041T=
NM_000400.3:c.1953T= , LRG_461t1:c.1953T=	NP_000391.1:p.Phe651=
XM_011526611.1:c.1875T=	XP_011524913.1:p.Phe625=
XM_011526611.2:c.1875T=	XP_011524913.1:p.Phe625=
XM_017026467.1:c.1830T=	XP_016881956.1:p.Phe610=
XR_001753633.2:n.2000T=
XR_001753634.2:n.1936T=
NM_000400.4:c.1953T= MANE Select	NP_000391.1:p.Phe651=