Canonical Allele Identifier: CA2338388745

Gene: ERCC2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45352324T= , CM000681.2:g.45352324T=	GRCh38
NC_000019.9:g.45855582T= , CM000681.1:g.45855582T=	GRCh37
NC_000019.8:g.50547422T=	NCBI36
NG_007067.2:g.23264A= , LRG_461:g.23264A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000391944.8:c.2075A=	ENSP00000375808.4:p.Lys692=
ENST00000682414.1:c.2075A=	ENSP00000507019.1:p.Lys692=
ENST00000682508.1:n.2104A=
ENST00000684218.1:c.*1333A=	ENSP00000507804.1:n.*1333A=
ENST00000684264.1:n.1631A=
ENST00000684407.1:c.1952A=	ENSP00000507775.1:p.Lys651=
ENST00000684458.1:c.*561A=	ENSP00000508260.1:n.*561A=
ENST00000684468.1:n.1787A=
ENST00000391945.10:c.2075A= MANE Select	ENSP00000375809.4:p.Lys692=
ENST00000646507.1:n.2172A=
ENST00000391941.6:c.2003A=	ENSP00000375805.2:p.Lys668=
ENST00000391942.6:n.1246A=
ENST00000391944.7:c.1841A=	ENSP00000375808.3:p.Lys614=
ENST00000391945.8:c.2075A=	ENSP00000375809.3:p.Lys692=
ENST00000588652.5:n.2163A=
NM_000400.3:c.2075A= , LRG_461t1:c.2075A=	NP_000391.1:p.Lys692=
XM_011526611.1:c.1997A=	XP_011524913.1:p.Lys666=
XM_011526611.2:c.1997A=	XP_011524913.1:p.Lys666=
XM_017026467.1:c.1952A=	XP_016881956.1:p.Lys651=
XR_001753633.2:n.2122A=
XR_001753634.2:n.2058A=
NM_000400.4:c.2075A= MANE Select	NP_000391.1:p.Lys692=