Canonical Allele Identifier: CA2338388612
Gene: ERCC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352135_45352160delinsGGGAGAATCCAAGGGGACTTTCTGGA , CM000681.2:g.45352135_45352160delinsGGGAGAATCCAAGGGGACTTTCTGGA GRCh38
NC_000019.9:g.45855393_45855418delinsGGGAGAATCCAAGGGGACTTTCTGGA , CM000681.1:g.45855393_45855418delinsGGGAGAATCCAAGGGGACTTTCTGGA GRCh37
NC_000019.8:g.50547233_50547258delinsGGGAGAATCCAAGGGGACTTTCTGGA NCBI36
NG_007067.2:g.23428_23453delinsTCCAGAAAGTCCCCTTGGATTCTCCC , LRG_461:g.23428_23453delinsTCCAGAAAGTCCCCTTGGATTCTCCC

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2239_2264delinsTCCAGAAAGTCCCCTTGGATTCTCCC ENSP00000375808.4:p.Ser747=
ENST00000682414.1:c.2190+49_2190+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC ENSP00000507019.1:n.2190+49_2190+74delins...
ENST00000682508.1:n.2219+49_2219+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC
ENST00000684218.1:c.*1448+49_*1448+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC ENSP00000507804.1:n.*1448+49_*1448+74deli...
ENST00000684264.1:n.1746+49_1746+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC
ENST00000684407.1:c.2067+49_2067+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC ENSP00000507775.1:n.2067+49_2067+74delins...
ENST00000684458.1:c.*676+49_*676+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC ENSP00000508260.1:n.*676+49_*676+74delins...
ENST00000684468.1:n.1902+49_1902+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC
ENST00000391945.10:c.2190+49_2190+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC MANE Select ENSP00000375809.4:n.2190+49_2190+74delins...
ENST00000646507.1:n.2287+49_2287+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC
ENST00000391942.6:n.1361+49_1361+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC
ENST00000391944.7:c.1956+49_1956+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC ENSP00000375808.3:n.1956+49_1956+74delins...
ENST00000391945.8:c.2190+49_2190+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC ENSP00000375809.3:n.2190+49_2190+74delins...
ENST00000588652.5:n.2278+49_2278+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC
NM_000400.3:c.2190+49_2190+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC , LRG_461t1:c.2190+49_2190+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC NP_000391.1:n.2190+49_2190+74delinsTCCAGA...
XM_011526611.1:c.2112+49_2112+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC XP_011524913.1:n.2112+49_2112+74delinsTCC...
XM_011526611.2:c.2112+49_2112+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC XP_011524913.1:n.2112+49_2112+74delinsTCC...
XM_017026467.1:c.2067+49_2067+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC XP_016881956.1:n.2067+49_2067+74delinsTCC...
XR_001753633.2:n.2237+49_2237+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC
XR_001753634.2:n.2173+49_2173+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC
NM_000400.4:c.2190+49_2190+74delinsTCCAGAAAGTCCCCTTGGATTCTCCC MANE Select NP_000391.1:n.2190+49_2190+74delinsTCCAGA...