Canonical Allele Identifier: CA428749706
Gene: GLI2 HGNC NCBI

Linked Data

COSMIC: COSM392004
MyVariant Identifiers: chr2:g.121746656del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120989081del , CM000664.2:g.120989081del GRCh38
NC_000002.11:g.121746657del , CM000664.1:g.121746657del GRCh37
NC_000002.10:g.121463127del NCBI36
NG_009030.1:g.196791del

Transcript Alleles

HGVS Amino-acid change
ENST00000361492.9:c.3116del MANE Select ENSP00000354586.5:p.Pro1039ArgfsTer?
ENST00000452319.6:c.3167del ENSP00000390436.1:p.Pro1056ArgfsTer?
ENST00000341310.10:c.*2215del ENSP00000344473.6:n.*2215del
ENST00000361492.8:c.3167del ENSP00000354586.4:p.Pro1056ArgfsTer?
ENST00000438299.5:c.*2266del ENSP00000400593.1:n.*2266del
ENST00000445186.5:c.*2266del ENSP00000397488.1:n.*2266del
ENST00000452319.5:c.3167del ENSP00000390436.1:p.Pro1056ArgfsTer?
ENST00000452692.5:c.*2215del ENSP00000403715.1:n.*2215del
NM_005270.4:c.3167del NP_005261.2:p.Pro1056ArgfsTer?
XM_006712422.1:c.3116del XP_006712485.1:p.Pro1039ArgfsTer?
XM_011510969.1:c.3149del XP_011509271.1:p.Pro1050ArgfsTer?
XM_011510970.1:c.3026del XP_011509272.1:p.Pro1009ArgfsTer?
XM_011510971.1:c.2972del XP_011509273.1:p.Pro991ArgfsTer?
XM_011510972.1:c.2972del XP_011509274.1:p.Pro991ArgfsTer?
XM_011510973.1:c.2792del XP_011509275.1:p.Pro931ArgfsTer?
XM_011510974.1:c.2741del XP_011509276.1:p.Pro914ArgfsTer?
XM_006712422.3:c.3116del XP_006712485.1:p.Pro1039ArgfsTer?
XM_011510969.2:c.3419del XP_011509271.2:p.Pro1140ArgfsTer?
XM_011510970.2:c.3026del XP_011509272.1:p.Pro1009ArgfsTer?
XM_011510971.2:c.2972del XP_011509273.1:p.Pro991ArgfsTer?
XM_011510972.2:c.3068del XP_011509274.2:p.Pro1023ArgfsTer?
XM_011510973.2:c.2792del XP_011509275.1:p.Pro931ArgfsTer?
XM_011510974.2:c.2741del XP_011509276.1:p.Pro914ArgfsTer?
XM_017003818.1:c.3368del XP_016859307.1:p.Pro1123ArgfsTer?
XM_024452794.1:c.3167del XP_024308562.1:p.Pro1056ArgfsTer?
XM_024452795.1:c.3167del XP_024308563.1:p.Pro1056ArgfsTer?
NM_001371271.1:c.3167del NP_001358200.1:p.Pro1056ArgfsTer?
NM_001374353.1:c.3116del MANE Select NP_001361282.1:p.Pro1039ArgfsTer?
NM_001374354.1:c.2741del NP_001361283.1:p.Pro914ArgfsTer?
NM_005270.5:c.3167del NP_005261.2:p.Pro1056ArgfsTer?