Canonical Allele Identifier: CA256988
Gene: GLI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 13835
ClinVar RCV Id: RCV000014847
dbSNP Id: rs121917707

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120975064G>A , CM000664.2:g.120975064G>A GRCh38
NC_000002.11:g.121732640G>A , CM000664.1:g.121732640G>A GRCh37
NC_000002.10:g.121449110G>A NCBI36
NG_009030.1:g.182774G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361492.9:c.1272G>A MANE Select ENSP00000354586.5:p.Trp424Ter
ENST00000452319.6:c.1323G>A ENSP00000390436.1:p.Trp441Ter
ENST00000314490.15:c.336G>A ENSP00000312694.12:p.Trp112Ter
ENST00000341310.10:c.*371G>A ENSP00000344473.6:n.*371G>A
ENST00000361492.8:c.1323G>A ENSP00000354586.4:p.Trp441Ter
ENST00000435313.6:n.1297G>A
ENST00000437950.5:c.*422G>A ENSP00000415773.1:n.*422G>A
ENST00000438299.5:c.*422G>A ENSP00000400593.1:n.*422G>A
ENST00000445186.5:c.*422G>A ENSP00000397488.1:n.*422G>A
ENST00000452319.5:c.1323G>A ENSP00000390436.1:p.Trp441Ter
ENST00000452692.5:c.*371G>A ENSP00000403715.1:n.*371G>A
NM_005270.4:c.1323G>A NP_005261.2:p.Trp441Ter
XM_006712422.1:c.1272G>A XP_006712485.1:p.Trp424Ter
XM_011510969.1:c.1305G>A XP_011509271.1:p.Trp435Ter
XM_011510970.1:c.1182G>A XP_011509272.1:p.Trp394Ter
XM_011510971.1:c.1128G>A XP_011509273.1:p.Trp376Ter
XM_011510972.1:c.1128G>A XP_011509274.1:p.Trp376Ter
XM_011510973.1:c.948G>A XP_011509275.1:p.Trp316Ter
XM_011510974.1:c.897G>A XP_011509276.1:p.Trp299Ter
XM_006712422.3:c.1272G>A XP_006712485.1:p.Trp424Ter
XM_011510969.2:c.1575G>A XP_011509271.2:p.Trp525Ter
XM_011510970.2:c.1182G>A XP_011509272.1:p.Trp394Ter
XM_011510971.2:c.1128G>A XP_011509273.1:p.Trp376Ter
XM_011510972.2:c.1224G>A XP_011509274.2:p.Trp408Ter
XM_011510973.2:c.948G>A XP_011509275.1:p.Trp316Ter
XM_011510974.2:c.897G>A XP_011509276.1:p.Trp299Ter
XM_017003818.1:c.1524G>A XP_016859307.1:p.Trp508Ter
XM_024452794.1:c.1323G>A XP_024308562.1:p.Trp441Ter
XM_024452795.1:c.1323G>A XP_024308563.1:p.Trp441Ter
NM_001371271.1:c.1323G>A NP_001358200.1:p.Trp441Ter
NM_001374353.1:c.1272G>A MANE Select NP_001361282.1:p.Trp424Ter
NM_001374354.1:c.897G>A NP_001361283.1:p.Trp299Ter
NM_005270.5:c.1323G>A NP_005261.2:p.Trp441Ter