Canonical Allele Identifier: CA1283790681
Gene: GLI2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120978529C= , CM000664.2:g.120978529C= GRCh38
NC_000002.11:g.121736105C= , CM000664.1:g.121736105C= GRCh37
NC_000002.10:g.121452575C= NCBI36
NG_009030.1:g.186239C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.1413C= MANE Select ENSP00000354586.5:p.Tyr471=
ENST00000452319.6:c.1464C= ENSP00000390436.1:p.Tyr488=
ENST00000314490.15:c.477C= ENSP00000312694.12:p.Tyr159=
ENST00000341310.10:c.*512C= ENSP00000344473.6:n.*512C=
ENST00000361492.8:c.1464C= ENSP00000354586.4:p.Tyr488=
ENST00000435313.6:n.1438C=
ENST00000437950.5:c.*563C= ENSP00000415773.1:n.*563C=
ENST00000438299.5:c.*563C= ENSP00000400593.1:n.*563C=
ENST00000445186.5:c.*563C= ENSP00000397488.1:n.*563C=
ENST00000452319.5:c.1464C= ENSP00000390436.1:p.Tyr488=
ENST00000452692.5:c.*512C= ENSP00000403715.1:n.*512C=
NM_005270.4:c.1464C= NP_005261.2:p.Tyr488=
XM_006712422.1:c.1413C= XP_006712485.1:p.Tyr471=
XM_011510969.1:c.1446C= XP_011509271.1:p.Tyr482=
XM_011510970.1:c.1323C= XP_011509272.1:p.Tyr441=
XM_011510971.1:c.1269C= XP_011509273.1:p.Tyr423=
XM_011510972.1:c.1269C= XP_011509274.1:p.Tyr423=
XM_011510973.1:c.1089C= XP_011509275.1:p.Tyr363=
XM_011510974.1:c.1038C= XP_011509276.1:p.Tyr346=
XM_006712422.3:c.1413C= XP_006712485.1:p.Tyr471=
XM_011510969.2:c.1716C= XP_011509271.2:p.Tyr572=
XM_011510970.2:c.1323C= XP_011509272.1:p.Tyr441=
XM_011510971.2:c.1269C= XP_011509273.1:p.Tyr423=
XM_011510972.2:c.1365C= XP_011509274.2:p.Tyr455=
XM_011510973.2:c.1089C= XP_011509275.1:p.Tyr363=
XM_011510974.2:c.1038C= XP_011509276.1:p.Tyr346=
XM_017003818.1:c.1665C= XP_016859307.1:p.Tyr555=
XM_024452794.1:c.1464C= XP_024308562.1:p.Tyr488=
XM_024452795.1:c.1464C= XP_024308563.1:p.Tyr488=
NM_001371271.1:c.1464C= NP_001358200.1:p.Tyr488=
NM_001374353.1:c.1413C= MANE Select NP_001361282.1:p.Tyr471=
NM_001374354.1:c.1038C= NP_001361283.1:p.Tyr346=
NM_005270.5:c.1464C= NP_005261.2:p.Tyr488=