Canonical Allele Identifier: CA428229922
Gene: GLI2 HGNC NCBI

Linked Data

dbSNP Id: rs2105050644
MyVariant Identifiers: chr2:g.121736057C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120978481C>T , CM000664.2:g.120978481C>T GRCh38
NC_000002.11:g.121736057C>T , CM000664.1:g.121736057C>T GRCh37
NC_000002.10:g.121452527C>T NCBI36
NG_009030.1:g.186191C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.1365C>T MANE Select ENSP00000354586.5:p.Cys455=
ENST00000452319.6:c.1416C>T ENSP00000390436.1:p.Cys472=
ENST00000314490.15:c.429C>T ENSP00000312694.12:p.Cys143=
ENST00000341310.10:c.*464C>T ENSP00000344473.6:n.*464C>T
ENST00000361492.8:c.1416C>T ENSP00000354586.4:p.Cys472=
ENST00000435313.6:n.1390C>T
ENST00000437950.5:c.*515C>T ENSP00000415773.1:n.*515C>T
ENST00000438299.5:c.*515C>T ENSP00000400593.1:n.*515C>T
ENST00000445186.5:c.*515C>T ENSP00000397488.1:n.*515C>T
ENST00000452319.5:c.1416C>T ENSP00000390436.1:p.Cys472=
ENST00000452692.5:c.*464C>T ENSP00000403715.1:n.*464C>T
NM_005270.4:c.1416C>T NP_005261.2:p.Cys472=
XM_006712422.1:c.1365C>T XP_006712485.1:p.Cys455=
XM_011510969.1:c.1398C>T XP_011509271.1:p.Cys466=
XM_011510970.1:c.1275C>T XP_011509272.1:p.Cys425=
XM_011510971.1:c.1221C>T XP_011509273.1:p.Cys407=
XM_011510972.1:c.1221C>T XP_011509274.1:p.Cys407=
XM_011510973.1:c.1041C>T XP_011509275.1:p.Cys347=
XM_011510974.1:c.990C>T XP_011509276.1:p.Cys330=
XM_006712422.3:c.1365C>T XP_006712485.1:p.Cys455=
XM_011510969.2:c.1668C>T XP_011509271.2:p.Cys556=
XM_011510970.2:c.1275C>T XP_011509272.1:p.Cys425=
XM_011510971.2:c.1221C>T XP_011509273.1:p.Cys407=
XM_011510972.2:c.1317C>T XP_011509274.2:p.Cys439=
XM_011510973.2:c.1041C>T XP_011509275.1:p.Cys347=
XM_011510974.2:c.990C>T XP_011509276.1:p.Cys330=
XM_017003818.1:c.1617C>T XP_016859307.1:p.Cys539=
XM_024452794.1:c.1416C>T XP_024308562.1:p.Cys472=
XM_024452795.1:c.1416C>T XP_024308563.1:p.Cys472=
NM_001371271.1:c.1416C>T NP_001358200.1:p.Cys472=
NM_001374353.1:c.1365C>T MANE Select NP_001361282.1:p.Cys455=
NM_001374354.1:c.990C>T NP_001361283.1:p.Cys330=
NM_005270.5:c.1416C>T NP_005261.2:p.Cys472=