Canonical Allele Identifier: CA1852678
Gene: GLI2 HGNC NCBI

Linked Data

dbSNP Id: rs778241780

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.120990584C>G , CM000664.2:g.120990584C>G GRCh38
NC_000002.11:g.121748160C>G , CM000664.1:g.121748160C>G GRCh37
NC_000002.10:g.121464630C>G NCBI36
NG_009030.1:g.198294C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361492.9:c.4619C>G MANE Select ENSP00000354586.5:p.Pro1540Arg
ENST00000452319.6:c.4670C>G ENSP00000390436.1:p.Pro1557Arg
ENST00000341310.10:c.*3718C>G ENSP00000344473.6:n.*3718C>G
ENST00000361492.8:c.4670C>G ENSP00000354586.4:p.Pro1557Arg
ENST00000438299.5:c.*2544-6C>G ENSP00000400593.1:n.*2544-6C>G
ENST00000445186.5:c.*3769C>G ENSP00000397488.1:n.*3769C>G
ENST00000452319.5:c.4670C>G ENSP00000390436.1:p.Pro1557Arg
ENST00000452692.5:c.*2493-6C>G ENSP00000403715.1:n.*2493-6C>G
NM_005270.4:c.4670C>G NP_005261.2:p.Pro1557Arg
XM_006712422.1:c.4619C>G XP_006712485.1:p.Pro1540Arg
XM_011510969.1:c.4652C>G XP_011509271.1:p.Pro1551Arg
XM_011510970.1:c.4529C>G XP_011509272.1:p.Pro1510Arg
XM_011510971.1:c.4475C>G XP_011509273.1:p.Pro1492Arg
XM_011510972.1:c.4475C>G XP_011509274.1:p.Pro1492Arg
XM_011510973.1:c.4295C>G XP_011509275.1:p.Pro1432Arg
XM_011510974.1:c.4244C>G XP_011509276.1:p.Pro1415Arg
XM_006712422.3:c.4619C>G XP_006712485.1:p.Pro1540Arg
XM_011510969.2:c.4922C>G XP_011509271.2:p.Pro1641Arg
XM_011510970.2:c.4529C>G XP_011509272.1:p.Pro1510Arg
XM_011510971.2:c.4475C>G XP_011509273.1:p.Pro1492Arg
XM_011510972.2:c.4571C>G XP_011509274.2:p.Pro1524Arg
XM_011510973.2:c.4295C>G XP_011509275.1:p.Pro1432Arg
XM_011510974.2:c.4244C>G XP_011509276.1:p.Pro1415Arg
XM_017003818.1:c.4871C>G XP_016859307.1:p.Pro1624Arg
XM_024452794.1:c.4670C>G XP_024308562.1:p.Pro1557Arg
XM_024452795.1:c.4670C>G XP_024308563.1:p.Pro1557Arg
NM_001371271.1:c.4670C>G NP_001358200.1:p.Pro1557Arg
NM_001374353.1:c.4619C>G MANE Select NP_001361282.1:p.Pro1540Arg
NM_001374354.1:c.4244C>G NP_001361283.1:p.Pro1415Arg
NM_005270.5:c.4670C>G NP_005261.2:p.Pro1557Arg