Canonical Allele Identifier: CA2585785484
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352212_45352235dup , CM000681.2:g.45352212_45352235dup GRCh38
NC_000019.9:g.45855470_45855493dup , CM000681.1:g.45855470_45855493dup GRCh37
NC_000019.8:g.50547310_50547333dup NCBI36
NG_007067.2:g.23356_23379dup , LRG_461:g.23356_23379dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.2167_2190dup ENSP00000375808.4:p.Arg730_Val731insGlnMetAlaGlnProPheHisArg
ENST00000682414.1:c.2167_2190dup ENSP00000507019.1:p.Arg730_Glu731insGlnMetAlaGlnProPheHisArg
ENST00000682508.1:n.2196_2219dup
ENST00000684218.1:c.*1425_*1448dup ENSP00000507804.1:n.*1425_*1448dup
ENST00000684264.1:n.1723_1746dup
ENST00000684407.1:c.2044_2067dup ENSP00000507775.1:p.Arg689_Glu690insGlnMetAlaGlnProPheHisArg
ENST00000684458.1:c.*653_*676dup ENSP00000508260.1:n.*653_*676dup
ENST00000684468.1:n.1879_1902dup
ENST00000391945.10:c.2167_2190dup MANE Select ENSP00000375809.4:p.Arg730_Glu731insGlnMetAlaGlnProPheHisArg
ENST00000646507.1:n.2264_2287dup
ENST00000391942.6:n.1338_1361dup
ENST00000391944.7:c.1933_1956dup ENSP00000375808.3:p.Arg652_Glu653insGlnMetAlaGlnProPheHisArg
ENST00000391945.8:c.2167_2190dup ENSP00000375809.3:p.Arg730_Glu731insGlnMetAlaGlnProPheHisArg
ENST00000588652.5:n.2255_2278dup
NM_000400.3:c.2167_2190dup , LRG_461t1:c.2167_2190dup NP_000391.1:p.Arg730_Glu731insGlnMetAlaGlnProPheHisArg
XM_011526611.1:c.2089_2112dup XP_011524913.1:p.Arg704_Glu705insGlnMetAlaGlnProPheHisArg
XM_011526611.2:c.2089_2112dup XP_011524913.1:p.Arg704_Glu705insGlnMetAlaGlnProPheHisArg
XM_017026467.1:c.2044_2067dup XP_016881956.1:p.Arg689_Glu690insGlnMetAlaGlnProPheHisArg
XR_001753633.2:n.2214_2237dup
XR_001753634.2:n.2150_2173dup
NM_000400.4:c.2167_2190dup MANE Select NP_000391.1:p.Arg730_Glu731insGlnMetAlaGlnProPheHisArg