Canonical Allele Identifier: CA882714867
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1159650345

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352133_45352139del , CM000681.2:g.45352133_45352139del GRCh38
NC_000019.9:g.45855391_45855397del , CM000681.1:g.45855391_45855397del GRCh37
NC_000019.8:g.50547231_50547237del NCBI36
NG_007067.2:g.23457_23463del , LRG_461:g.23457_23463del

Transcript Alleles

HGVS Amino-acid change
ENST00000391945.10:c.2190+78_2190+84del MANE Select ENSP00000375809.4:p.=
ENST00000646507.1:n.2287+78_2287+84del
ENST00000391942.6:n.1361+78_1361+84del
ENST00000391944.7:c.1956+78_1956+84del ENSP00000375808.3:p.=
ENST00000391945.8:c.2190+78_2190+84del ENSP00000375809.3:p.=
ENST00000588652.5:n.2278+78_2278+84del
NM_000400.3:c.2190+78_2190+84del , LRG_461t1:c.2190+78_2190+84del NP_000391.1:p.=
XM_011526611.1:c.2112+78_2112+84del XP_011524913.1:p.=
XM_011526611.2:c.2112+78_2112+84del XP_011524913.1:p.=
XM_017026467.1:c.2067+78_2067+84del XP_016881956.1:p.=
XR_001753633.2:n.2237+78_2237+84del
XR_001753634.2:n.2173+78_2173+84del
NM_000400.4:c.2190+78_2190+84del MANE Select NP_000391.1:p.=