Canonical Allele Identifier: CA16617227
Gene: GLI2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419412
ClinVar RCV Id: RCV000484788
dbSNP Id: rs1064793857

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120968916G>C , CM000664.2:g.120968916G>C GRCh38
NC_000002.11:g.121726492G>C , CM000664.1:g.121726492G>C GRCh37
NC_000002.10:g.121442962G>C NCBI36
NG_009030.1:g.176626G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000361492.9:c.845+1G>C MANE Select ENSP00000354586.5:n.845+1G>C
ENST00000452319.6:c.845+1G>C ENSP00000390436.1:n.845+1G>C
ENST00000314490.15:c.-139-1477G>C ENSP00000312694.12:n.-139-1477G>C
ENST00000341310.10:c.149-1477G>C ENSP00000344473.6:n.149-1477G>C
ENST00000360874.10:c.432+1G>C ENSP00000441454.1:n.432+1G>C
ENST00000361492.8:c.845+1G>C ENSP00000354586.4:n.845+1G>C
ENST00000433812.1:c.715+1G>C ENSP00000402383.1:n.715+1G>C
ENST00000435313.6:n.870+1G>C
ENST00000437950.5:c.149-1477G>C ENSP00000415773.1:n.149-1477G>C
ENST00000438299.5:c.149-1477G>C ENSP00000400593.1:n.149-1477G>C
ENST00000445186.5:c.149-1477G>C ENSP00000397488.1:n.149-1477G>C
ENST00000452319.5:c.845+1G>C ENSP00000390436.1:n.845+1G>C
ENST00000452692.5:c.149-1477G>C ENSP00000403715.1:n.149-1477G>C
NM_005270.4:c.845+1G>C NP_005261.2:n.845+1G>C
XM_006712422.1:c.845+1G>C XP_006712485.1:n.845+1G>C
XM_011510969.1:c.827+1G>C XP_011509271.1:n.827+1G>C
XM_011510970.1:c.704+1G>C XP_011509272.1:n.704+1G>C
XM_011510971.1:c.650+1G>C XP_011509273.1:n.650+1G>C
XM_011510972.1:c.650+1G>C XP_011509274.1:n.650+1G>C
XM_011510973.1:c.470+1G>C XP_011509275.1:n.470+1G>C
XM_011510974.1:c.470+1G>C XP_011509276.1:n.470+1G>C
XM_006712422.3:c.845+1G>C XP_006712485.1:n.845+1G>C
XM_011510969.2:c.1097+1G>C XP_011509271.2:n.1097+1G>C
XM_011510970.2:c.704+1G>C XP_011509272.1:n.704+1G>C
XM_011510971.2:c.650+1G>C XP_011509273.1:n.650+1G>C
XM_011510972.2:c.746+1G>C XP_011509274.2:n.746+1G>C
XM_011510973.2:c.470+1G>C XP_011509275.1:n.470+1G>C
XM_011510974.2:c.470+1G>C XP_011509276.1:n.470+1G>C
XM_017003818.1:c.1097+1G>C XP_016859307.1:n.1097+1G>C
XM_024452794.1:c.845+1G>C XP_024308562.1:n.845+1G>C
XM_024452795.1:c.845+1G>C XP_024308563.1:n.845+1G>C
NM_001371271.1:c.845+1G>C NP_001358200.1:n.845+1G>C
NM_001374353.1:c.845+1G>C MANE Select NP_001361282.1:n.845+1G>C
NM_001374354.1:c.470+1G>C NP_001361283.1:n.470+1G>C
NM_005270.5:c.845+1G>C NP_005261.2:n.845+1G>C