Canonical Allele Identifier: CA2338388595
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352124_45352131delinsGGTGGGGA , CM000681.2:g.45352124_45352131delinsGGTGGGGA GRCh38
NC_000019.9:g.45855382_45855389delinsGGTGGGGA , CM000681.1:g.45855382_45855389delinsGGTGGGGA GRCh37
NC_000019.8:g.50547222_50547229delinsGGTGGGGA NCBI36
NG_007067.2:g.23457_23464delinsTCCCCACC , LRG_461:g.23457_23464delinsTCCCCACC

Transcript Alleles

HGVS Amino-acid Change
ENST00000391944.8:c.2268_2275delinsTCCCCACC ENSP00000375808.4:p.Thr756=
ENST00000682414.1:c.2190+78_2190+85delinsTCCCCACC ENSP00000507019.1:n.2190+78_2190+85delinsTCCCCACC
ENST00000682508.1:n.2219+78_2219+85delinsTCCCCACC
ENST00000684218.1:c.*1448+78_*1448+85delinsTCCCCACC ENSP00000507804.1:n.*1448+78_*1448+85delinsTCCCCACC
ENST00000684264.1:n.1746+78_1746+85delinsTCCCCACC
ENST00000684407.1:c.2067+78_2067+85delinsTCCCCACC ENSP00000507775.1:n.2067+78_2067+85delinsTCCCCACC
ENST00000684458.1:c.*676+78_*676+85delinsTCCCCACC ENSP00000508260.1:n.*676+78_*676+85delinsTCCCCACC
ENST00000684468.1:n.1902+78_1902+85delinsTCCCCACC
ENST00000391945.10:c.2190+78_2190+85delinsTCCCCACC MANE Select ENSP00000375809.4:n.2190+78_2190+85delinsTCCCCACC
ENST00000646507.1:n.2287+78_2287+85delinsTCCCCACC
ENST00000391942.6:n.1361+78_1361+85delinsTCCCCACC
ENST00000391944.7:c.1956+78_1956+85delinsTCCCCACC ENSP00000375808.3:n.1956+78_1956+85delinsTCCCCACC
ENST00000391945.8:c.2190+78_2190+85delinsTCCCCACC ENSP00000375809.3:n.2190+78_2190+85delinsTCCCCACC
ENST00000588652.5:n.2278+78_2278+85delinsTCCCCACC
NM_000400.3:c.2190+78_2190+85delinsTCCCCACC , LRG_461t1:c.2190+78_2190+85delinsTCCCCACC NP_000391.1:n.2190+78_2190+85delinsTCCCCACC
XM_011526611.1:c.2112+78_2112+85delinsTCCCCACC XP_011524913.1:n.2112+78_2112+85delinsTCCCCACC
XM_011526611.2:c.2112+78_2112+85delinsTCCCCACC XP_011524913.1:n.2112+78_2112+85delinsTCCCCACC
XM_017026467.1:c.2067+78_2067+85delinsTCCCCACC XP_016881956.1:n.2067+78_2067+85delinsTCCCCACC
XR_001753633.2:n.2237+78_2237+85delinsTCCCCACC
XR_001753634.2:n.2173+78_2173+85delinsTCCCCACC
NM_000400.4:c.2190+78_2190+85delinsTCCCCACC MANE Select NP_000391.1:n.2190+78_2190+85delinsTCCCCACC