Canonical Allele Identifier: CA1851905

Gene: GLI2

Linked Data

• dbSNP Id: rs770087395
• ExAC: 2:121736083 A / G
• gnomAD v2: 2-121736083-A-G
• gnomAD v4: 2-120978507-A-G
• MyVariant Identifiers: chr2:g.121736083A>G (hg19) ; chr2:g.120978507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978507A>G , CM000664.2:g.120978507A>G	GRCh38
NC_000002.11:g.121736083A>G , CM000664.1:g.121736083A>G	GRCh37
NC_000002.10:g.121452553A>G	NCBI36
NG_009030.1:g.186217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1391A>G MANE Select	ENSP00000354586.5:p.Gln464Arg
ENST00000452319.6:c.1442A>G	ENSP00000390436.1:p.Gln481Arg
ENST00000314490.15:c.455A>G	ENSP00000312694.12:p.Gln152Arg
ENST00000341310.10:c.*490A>G	ENSP00000344473.6:n.*490A>G
ENST00000361492.8:c.1442A>G	ENSP00000354586.4:p.Gln481Arg
ENST00000435313.6:n.1416A>G
ENST00000437950.5:c.*541A>G	ENSP00000415773.1:n.*541A>G
ENST00000438299.5:c.*541A>G	ENSP00000400593.1:n.*541A>G
ENST00000445186.5:c.*541A>G	ENSP00000397488.1:n.*541A>G
ENST00000452319.5:c.1442A>G	ENSP00000390436.1:p.Gln481Arg
ENST00000452692.5:c.*490A>G	ENSP00000403715.1:n.*490A>G
NM_005270.4:c.1442A>G	NP_005261.2:p.Gln481Arg
XM_006712422.1:c.1391A>G	XP_006712485.1:p.Gln464Arg
XM_011510969.1:c.1424A>G	XP_011509271.1:p.Gln475Arg
XM_011510970.1:c.1301A>G	XP_011509272.1:p.Gln434Arg
XM_011510971.1:c.1247A>G	XP_011509273.1:p.Gln416Arg
XM_011510972.1:c.1247A>G	XP_011509274.1:p.Gln416Arg
XM_011510973.1:c.1067A>G	XP_011509275.1:p.Gln356Arg
XM_011510974.1:c.1016A>G	XP_011509276.1:p.Gln339Arg
XM_006712422.3:c.1391A>G	XP_006712485.1:p.Gln464Arg
XM_011510969.2:c.1694A>G	XP_011509271.2:p.Gln565Arg
XM_011510970.2:c.1301A>G	XP_011509272.1:p.Gln434Arg
XM_011510971.2:c.1247A>G	XP_011509273.1:p.Gln416Arg
XM_011510972.2:c.1343A>G	XP_011509274.2:p.Gln448Arg
XM_011510973.2:c.1067A>G	XP_011509275.1:p.Gln356Arg
XM_011510974.2:c.1016A>G	XP_011509276.1:p.Gln339Arg
XM_017003818.1:c.1643A>G	XP_016859307.1:p.Gln548Arg
XM_024452794.1:c.1442A>G	XP_024308562.1:p.Gln481Arg
XM_024452795.1:c.1442A>G	XP_024308563.1:p.Gln481Arg
NM_001371271.1:c.1442A>G	NP_001358200.1:p.Gln481Arg
NM_001374353.1:c.1391A>G MANE Select	NP_001361282.1:p.Gln464Arg
NM_001374354.1:c.1016A>G	NP_001361283.1:p.Gln339Arg
NM_005270.5:c.1442A>G	NP_005261.2:p.Gln481Arg