Canonical Allele Identifier: CA348161497
Gene: GLI2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120978490G>T , CM000664.2:g.120978490G>T GRCh38
NC_000002.11:g.121736066G>T , CM000664.1:g.121736066G>T GRCh37
NC_000002.10:g.121452536G>T NCBI36
NG_009030.1:g.186200G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.1374G>T MANE Select ENSP00000354586.5:p.Gln458His
ENST00000452319.6:c.1425G>T ENSP00000390436.1:p.Gln475His
ENST00000314490.15:c.438G>T ENSP00000312694.12:p.Gln146His
ENST00000341310.10:c.*473G>T ENSP00000344473.6:n.*473G>T
ENST00000361492.8:c.1425G>T ENSP00000354586.4:p.Gln475His
ENST00000435313.6:n.1399G>T
ENST00000437950.5:c.*524G>T ENSP00000415773.1:n.*524G>T
ENST00000438299.5:c.*524G>T ENSP00000400593.1:n.*524G>T
ENST00000445186.5:c.*524G>T ENSP00000397488.1:n.*524G>T
ENST00000452319.5:c.1425G>T ENSP00000390436.1:p.Gln475His
ENST00000452692.5:c.*473G>T ENSP00000403715.1:n.*473G>T
NM_005270.4:c.1425G>T NP_005261.2:p.Gln475His
XM_006712422.1:c.1374G>T XP_006712485.1:p.Gln458His
XM_011510969.1:c.1407G>T XP_011509271.1:p.Gln469His
XM_011510970.1:c.1284G>T XP_011509272.1:p.Gln428His
XM_011510971.1:c.1230G>T XP_011509273.1:p.Gln410His
XM_011510972.1:c.1230G>T XP_011509274.1:p.Gln410His
XM_011510973.1:c.1050G>T XP_011509275.1:p.Gln350His
XM_011510974.1:c.999G>T XP_011509276.1:p.Gln333His
XM_006712422.3:c.1374G>T XP_006712485.1:p.Gln458His
XM_011510969.2:c.1677G>T XP_011509271.2:p.Gln559His
XM_011510970.2:c.1284G>T XP_011509272.1:p.Gln428His
XM_011510971.2:c.1230G>T XP_011509273.1:p.Gln410His
XM_011510972.2:c.1326G>T XP_011509274.2:p.Gln442His
XM_011510973.2:c.1050G>T XP_011509275.1:p.Gln350His
XM_011510974.2:c.999G>T XP_011509276.1:p.Gln333His
XM_017003818.1:c.1626G>T XP_016859307.1:p.Gln542His
XM_024452794.1:c.1425G>T XP_024308562.1:p.Gln475His
XM_024452795.1:c.1425G>T XP_024308563.1:p.Gln475His
NM_001371271.1:c.1425G>T NP_001358200.1:p.Gln475His
NM_001374353.1:c.1374G>T MANE Select NP_001361282.1:p.Gln458His
NM_001374354.1:c.999G>T NP_001361283.1:p.Gln333His
NM_005270.5:c.1425G>T NP_005261.2:p.Gln475His