Canonical Allele Identifier: CA996294817
Gene: ERCC2 HGNC NCBI

Linked Data

dbSNP Id: rs1971819951

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45352120_45352203del , CM000681.2:g.45352120_45352203del GRCh38
NC_000019.9:g.45855378_45855461del , CM000681.1:g.45855378_45855461del GRCh37
NC_000019.8:g.50547218_50547301del NCBI36
NG_007067.2:g.23391_23474del , LRG_461:g.23391_23474del

Transcript Alleles

HGVS Amino-acid change
ENST00000391944.8:c.2202_2285del ENSP00000375808.4:p.Ser735_Ala762del
ENST00000682414.1:c.2190+12_2190+95del ENSP00000507019.1:n.2190+12_2190+95del
ENST00000682508.1:n.2219+12_2219+95del
ENST00000684218.1:c.*1448+12_*1448+95del ENSP00000507804.1:n.*1448+12_*1448+95del
ENST00000684264.1:n.1746+12_1746+95del
ENST00000684407.1:c.2067+12_2067+95del ENSP00000507775.1:n.2067+12_2067+95del
ENST00000684458.1:c.*676+12_*676+95del ENSP00000508260.1:n.*676+12_*676+95del
ENST00000684468.1:n.1902+12_1902+95del
ENST00000391945.10:c.2190+12_2190+95del MANE Select ENSP00000375809.4:n.2190+12_2190+95del
ENST00000646507.1:n.2287+12_2287+95del
ENST00000391942.6:n.1361+12_1361+95del
ENST00000391944.7:c.1956+12_1956+95del ENSP00000375808.3:n.1956+12_1956+95del
ENST00000391945.8:c.2190+12_2190+95del ENSP00000375809.3:n.2190+12_2190+95del
ENST00000588652.5:n.2278+12_2278+95del
NM_000400.3:c.2190+12_2190+95del , LRG_461t1:c.2190+12_2190+95del NP_000391.1:n.2190+12_2190+95del
XM_011526611.1:c.2112+12_2112+95del XP_011524913.1:n.2112+12_2112+95del
XM_011526611.2:c.2112+12_2112+95del XP_011524913.1:n.2112+12_2112+95del
XM_017026467.1:c.2067+12_2067+95del XP_016881956.1:n.2067+12_2067+95del
XR_001753633.2:n.2237+12_2237+95del
XR_001753634.2:n.2173+12_2173+95del
NM_000400.4:c.2190+12_2190+95del MANE Select NP_000391.1:n.2190+12_2190+95del