Canonical Allele Identifier: CA2338388610
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1971821863

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352139_45352151del , CM000681.2:g.45352139_45352151del GRCh38
NC_000019.9:g.45855397_45855409del , CM000681.1:g.45855397_45855409del GRCh37
NC_000019.8:g.50547237_50547249del NCBI36
NG_007067.2:g.23442_23454del , LRG_461:g.23442_23454del

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2253_2265del ENSP00000375808.4:p.Trp752LeufsTer?
ENST00000682414.1:c.2190+63_2190+75del ENSP00000507019.1:n.2190+63_2190+75del
ENST00000682508.1:n.2219+63_2219+75del
ENST00000684218.1:c.*1448+63_*1448+75del ENSP00000507804.1:n.*1448+63_*1448+75del
ENST00000684264.1:n.1746+63_1746+75del
ENST00000684407.1:c.2067+63_2067+75del ENSP00000507775.1:n.2067+63_2067+75del
ENST00000684458.1:c.*676+63_*676+75del ENSP00000508260.1:n.*676+63_*676+75del
ENST00000684468.1:n.1902+63_1902+75del
ENST00000391945.10:c.2190+63_2190+75del MANE Select ENSP00000375809.4:n.2190+63_2190+75del
ENST00000646507.1:n.2287+63_2287+75del
ENST00000391942.6:n.1361+63_1361+75del
ENST00000391944.7:c.1956+63_1956+75del ENSP00000375808.3:n.1956+63_1956+75del
ENST00000391945.8:c.2190+63_2190+75del ENSP00000375809.3:n.2190+63_2190+75del
ENST00000588652.5:n.2278+63_2278+75del
NM_000400.3:c.2190+63_2190+75del , LRG_461t1:c.2190+63_2190+75del NP_000391.1:n.2190+63_2190+75del
XM_011526611.1:c.2112+63_2112+75del XP_011524913.1:n.2112+63_2112+75del
XM_011526611.2:c.2112+63_2112+75del XP_011524913.1:n.2112+63_2112+75del
XM_017026467.1:c.2067+63_2067+75del XP_016881956.1:n.2067+63_2067+75del
XR_001753633.2:n.2237+63_2237+75del
XR_001753634.2:n.2173+63_2173+75del
NM_000400.4:c.2190+63_2190+75del MANE Select NP_000391.1:n.2190+63_2190+75del