Canonical Allele Identifier: CA348161534
Gene: GLI2 HGNC NCBI

Linked Data

dbSNP Id: rs1682567886

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120978509A>G , CM000664.2:g.120978509A>G GRCh38
NC_000002.11:g.121736085A>G , CM000664.1:g.121736085A>G GRCh37
NC_000002.10:g.121452555A>G NCBI36
NG_009030.1:g.186219A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.1393A>G MANE Select ENSP00000354586.5:p.Lys465Glu
ENST00000452319.6:c.1444A>G ENSP00000390436.1:p.Lys482Glu
ENST00000314490.15:c.457A>G ENSP00000312694.12:p.Lys153Glu
ENST00000341310.10:c.*492A>G ENSP00000344473.6:n.*492A>G
ENST00000361492.8:c.1444A>G ENSP00000354586.4:p.Lys482Glu
ENST00000435313.6:n.1418A>G
ENST00000437950.5:c.*543A>G ENSP00000415773.1:n.*543A>G
ENST00000438299.5:c.*543A>G ENSP00000400593.1:n.*543A>G
ENST00000445186.5:c.*543A>G ENSP00000397488.1:n.*543A>G
ENST00000452319.5:c.1444A>G ENSP00000390436.1:p.Lys482Glu
ENST00000452692.5:c.*492A>G ENSP00000403715.1:n.*492A>G
NM_005270.4:c.1444A>G NP_005261.2:p.Lys482Glu
XM_006712422.1:c.1393A>G XP_006712485.1:p.Lys465Glu
XM_011510969.1:c.1426A>G XP_011509271.1:p.Lys476Glu
XM_011510970.1:c.1303A>G XP_011509272.1:p.Lys435Glu
XM_011510971.1:c.1249A>G XP_011509273.1:p.Lys417Glu
XM_011510972.1:c.1249A>G XP_011509274.1:p.Lys417Glu
XM_011510973.1:c.1069A>G XP_011509275.1:p.Lys357Glu
XM_011510974.1:c.1018A>G XP_011509276.1:p.Lys340Glu
XM_006712422.3:c.1393A>G XP_006712485.1:p.Lys465Glu
XM_011510969.2:c.1696A>G XP_011509271.2:p.Lys566Glu
XM_011510970.2:c.1303A>G XP_011509272.1:p.Lys435Glu
XM_011510971.2:c.1249A>G XP_011509273.1:p.Lys417Glu
XM_011510972.2:c.1345A>G XP_011509274.2:p.Lys449Glu
XM_011510973.2:c.1069A>G XP_011509275.1:p.Lys357Glu
XM_011510974.2:c.1018A>G XP_011509276.1:p.Lys340Glu
XM_017003818.1:c.1645A>G XP_016859307.1:p.Lys549Glu
XM_024452794.1:c.1444A>G XP_024308562.1:p.Lys482Glu
XM_024452795.1:c.1444A>G XP_024308563.1:p.Lys482Glu
NM_001371271.1:c.1444A>G NP_001358200.1:p.Lys482Glu
NM_001374353.1:c.1393A>G MANE Select NP_001361282.1:p.Lys465Glu
NM_001374354.1:c.1018A>G NP_001361283.1:p.Lys340Glu
NM_005270.5:c.1444A>G NP_005261.2:p.Lys482Glu