Canonical Allele Identifier: CA16043646
Gene: GLI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374323
ClinVar RCV Id: RCV000415288
dbSNP Id: rs1057518696
MyVariant Identifiers: chr2:g.121728014del (hg19) chr2:g.120970438del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120970438del , CM000664.2:g.120970438del GRCh38
NC_000002.11:g.121728014del , CM000664.1:g.121728014del GRCh37
NC_000002.10:g.121444484del NCBI36
NG_009030.1:g.178148del

Transcript Alleles

HGVS Amino-acid change
ENST00000361492.9:c.891del MANE Select ENSP00000354586.5:p.Gln297HisfsTer4
ENST00000452319.6:c.891del ENSP00000390436.1:p.Gln297HisfsTer4
ENST00000314490.15:c.-94del ENSP00000312694.12:n.-94del
ENST00000341310.10:c.194del ENSP00000344473.6:p.Ser65ThrfsTer?
ENST00000360874.10:c.478del ENSP00000441454.1:p.Ala160GlnfsTer?
ENST00000361492.8:c.891del ENSP00000354586.4:p.Gln297HisfsTer4
ENST00000433812.1:c.761del ENSP00000402383.1:n.761del
ENST00000435313.6:n.916del
ENST00000437950.5:c.194del ENSP00000415773.1:p.Ser65ThrfsTer?
ENST00000438299.5:c.194del ENSP00000400593.1:p.Ser65ThrfsTer?
ENST00000445186.5:c.194del ENSP00000397488.1:p.Ser65ThrfsTer?
ENST00000452319.5:c.891del ENSP00000390436.1:p.Gln297HisfsTer4
ENST00000452692.5:c.194del ENSP00000403715.1:p.Ser65ThrfsTer?
NM_005270.4:c.891del NP_005261.2:p.Gln297HisfsTer4
XM_006712422.1:c.891del XP_006712485.1:p.Gln297HisfsTer4
XM_011510969.1:c.873del XP_011509271.1:p.Gln291HisfsTer4
XM_011510970.1:c.750del XP_011509272.1:p.Gln250HisfsTer4
XM_011510971.1:c.696del XP_011509273.1:p.Gln232HisfsTer4
XM_011510972.1:c.696del XP_011509274.1:p.Gln232HisfsTer4
XM_011510973.1:c.516del XP_011509275.1:p.Gln172HisfsTer4
XM_011510974.1:c.516del XP_011509276.1:p.Gln172HisfsTer4
XM_006712422.3:c.891del XP_006712485.1:p.Gln297HisfsTer4
XM_011510969.2:c.1143del XP_011509271.2:p.Gln381HisfsTer4
XM_011510970.2:c.750del XP_011509272.1:p.Gln250HisfsTer4
XM_011510971.2:c.696del XP_011509273.1:p.Gln232HisfsTer4
XM_011510972.2:c.792del XP_011509274.2:p.Gln264HisfsTer4
XM_011510973.2:c.516del XP_011509275.1:p.Gln172HisfsTer4
XM_011510974.2:c.516del XP_011509276.1:p.Gln172HisfsTer4
XM_017003818.1:c.1143del XP_016859307.1:p.Gln381HisfsTer4
XM_024452794.1:c.891del XP_024308562.1:p.Gln297HisfsTer4
XM_024452795.1:c.891del XP_024308563.1:p.Gln297HisfsTer4
NM_001371271.1:c.891del NP_001358200.1:p.Gln297HisfsTer4
NM_001374353.1:c.891del MANE Select NP_001361282.1:p.Gln297HisfsTer4
NM_001374354.1:c.516del NP_001361283.1:p.Gln172HisfsTer4
NM_005270.5:c.891del NP_005261.2:p.Gln297HisfsTer4
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