Canonical Allele Identifier: CA1139662740
Community Standard Title: NM_005419.4(STAT2):c.1791del (p.Leu599TyrfsTer?)
Gene: STAT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.56346890del , CM000674.2:g.56346890del GRCh38
NC_000012.11:g.56740674del , CM000674.1:g.56740674del GRCh37
NC_000012.10:g.55026941del NCBI36
NG_046314.1:g.18365del

Transcript Alleles

HGVS Amino-acid Change
NM_005419.4:c.1791del MANE Select NP_005410.1:p.Leu599TyrfsTer?
ENST00000314128.9:c.1791del MANE Select ENSP00000315768.4:p.Leu599TyrfsTer?
NM_001385110.1:c.1758del NP_001372039.1:p.Leu588TyrfsTer?
NM_001385111.1:c.1692del NP_001372040.1:p.Leu566TyrfsTer?
NM_001385113.1:c.1791del NP_001372042.1:p.Leu599TyrfsTer?
NM_001385114.1:c.1770del NP_001372043.1:p.Leu592TyrfsTer?
NM_001385115.1:c.1749del NP_001372044.1:p.Leu585TyrfsTer?
NM_005419.3:c.1791del NP_005410.1:p.Leu599TyrfsTer?
NM_198332.1:c.1779del NP_938146.1:p.Leu595TyrfsTer?
NM_198332.2:c.1779del NP_938146.1:p.Leu595TyrfsTer?
ENST00000314128.8:c.1791del ENSP00000315768.4:p.Leu599TyrfsTer?
ENST00000555488.2:n.1187del
ENST00000556140.6:n.2563del
ENST00000556539.5:n.721del
ENST00000557199.1:n.451del
ENST00000557235.5:c.1779del ENSP00000450751.1:p.Leu595TyrfsTer?
ENST00000650805.1:c.*1225del ENSP00000498710.1:n.*1225del
ENST00000651078.1:n.2444del
ENST00000651301.1:c.*1465del ENSP00000498470.1:n.*1465del
ENST00000651339.1:n.498del
ENST00000651805.1:n.2180del
ENST00000651915.1:c.1692del ENSP00000498876.1:p.Leu566TyrfsTer?
ENST00000651934.1:n.2231del
ENST00000651967.1:n.1906del
ENST00000652091.1:n.2309del
ENST00000652398.1:c.*1357del ENSP00000499022.1:n.*1357del
ENST00000652624.1:c.*917del ENSP00000499108.1:n.*917del
ENST00000652741.1:c.*1546del ENSP00000498704.1:n.*1546del
ENST00000698178.1:n.2382del
ENST00000698179.1:n.2334del
ENST00000698180.1:c.*1546del ENSP00000513597.1:n.*1546del
ENST00000698181.1:n.2828del
ENST00000698182.1:n.2601del
ENST00000698183.1:n.3061del
ENST00000698184.1:n.2641del
ENST00000698185.1:n.2994del
ENST00000698186.1:c.1659del ENSP00000513598.1:p.Leu555TyrfsTer?
ENST00000698187.1:n.2117del
ENST00000698188.1:n.2458del
ENST00000698189.1:n.3575del
ENST00000698190.1:n.2449del
ENST00000698191.1:n.2382del
ENST00000698192.1:c.1791del ENSP00000513599.1:p.Leu599TyrfsTer?
ENST00000698193.1:c.1791del ENSP00000513600.1:p.Leu599TyrfsTer?
XM_011538697.1:c.1815del XP_011536999.1:p.Leu607TyrfsTer?
XM_011538697.2:c.1815del XP_011536999.1:p.Leu607TyrfsTer?
XM_011538698.1:c.1803del XP_011537000.1:p.Leu603TyrfsTer?
XM_011538698.3:c.1803del XP_011537000.1:p.Leu603TyrfsTer?
XM_011538700.1:c.1083del XP_011537002.1:p.Leu363TyrfsTer?
XM_011538700.2:c.1083del XP_011537002.1:p.Leu363TyrfsTer?
XM_011538701.1:c.846del XP_011537003.1:p.Leu284TyrfsTer?
XM_017019904.2:c.1059del XP_016875393.1:p.Leu355TyrfsTer?
XR_001748856.1:n.1714del
XR_001748857.1:n.1795del
XR_001748858.2:n.1672del
XR_002957375.1:n.2086del
XR_002957376.1:n.2044del