Canonical Allele Identifier: CA348173105
Gene: GLI2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120989179G>A , CM000664.2:g.120989179G>A GRCh38
NC_000002.11:g.121746755G>A , CM000664.1:g.121746755G>A GRCh37
NC_000002.10:g.121463225G>A NCBI36
NG_009030.1:g.196889G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361492.9:c.3214G>A MANE Select ENSP00000354586.5:p.Glu1072Lys
ENST00000452319.6:c.3265G>A ENSP00000390436.1:p.Glu1089Lys
ENST00000341310.10:c.*2313G>A ENSP00000344473.6:n.*2313G>A
ENST00000361492.8:c.3265G>A ENSP00000354586.4:p.Glu1089Lys
ENST00000438299.5:c.*2364G>A ENSP00000400593.1:n.*2364G>A
ENST00000445186.5:c.*2364G>A ENSP00000397488.1:n.*2364G>A
ENST00000452319.5:c.3265G>A ENSP00000390436.1:p.Glu1089Lys
ENST00000452692.5:c.*2313G>A ENSP00000403715.1:n.*2313G>A
NM_005270.4:c.3265G>A NP_005261.2:p.Glu1089Lys
XM_006712422.1:c.3214G>A XP_006712485.1:p.Glu1072Lys
XM_011510969.1:c.3247G>A XP_011509271.1:p.Glu1083Lys
XM_011510970.1:c.3124G>A XP_011509272.1:p.Glu1042Lys
XM_011510971.1:c.3070G>A XP_011509273.1:p.Glu1024Lys
XM_011510972.1:c.3070G>A XP_011509274.1:p.Glu1024Lys
XM_011510973.1:c.2890G>A XP_011509275.1:p.Glu964Lys
XM_011510974.1:c.2839G>A XP_011509276.1:p.Glu947Lys
XM_006712422.3:c.3214G>A XP_006712485.1:p.Glu1072Lys
XM_011510969.2:c.3517G>A XP_011509271.2:p.Glu1173Lys
XM_011510970.2:c.3124G>A XP_011509272.1:p.Glu1042Lys
XM_011510971.2:c.3070G>A XP_011509273.1:p.Glu1024Lys
XM_011510972.2:c.3166G>A XP_011509274.2:p.Glu1056Lys
XM_011510973.2:c.2890G>A XP_011509275.1:p.Glu964Lys
XM_011510974.2:c.2839G>A XP_011509276.1:p.Glu947Lys
XM_017003818.1:c.3466G>A XP_016859307.1:p.Glu1156Lys
XM_024452794.1:c.3265G>A XP_024308562.1:p.Glu1089Lys
XM_024452795.1:c.3265G>A XP_024308563.1:p.Glu1089Lys
NM_001371271.1:c.3265G>A NP_001358200.1:p.Glu1089Lys
NM_001374353.1:c.3214G>A MANE Select NP_001361282.1:p.Glu1072Lys
NM_001374354.1:c.2839G>A NP_001361283.1:p.Glu947Lys
NM_005270.5:c.3265G>A NP_005261.2:p.Glu1089Lys