Canonical Allele Identifier: CA428559484

Gene: GLI2

Linked Data

• dbSNP Id: rs1193828356
• gnomAD v3: 2-120990612-G-A
• gnomAD v4: 2-120990612-G-A
• MyVariant Identifiers: chr2:g.121748188G>A (hg19) ; chr2:g.120990612G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990612G>A , CM000664.2:g.120990612G>A	GRCh38
NC_000002.11:g.121748188G>A , CM000664.1:g.121748188G>A	GRCh37
NC_000002.10:g.121464658G>A	NCBI36
NG_009030.1:g.198322G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4647G>A MANE Select	ENSP00000354586.5:p.Gly1549=
ENST00000452319.6:c.4698G>A	ENSP00000390436.1:p.Gly1566=
ENST00000341310.10:c.*3746G>A	ENSP00000344473.6:n.*3746G>A
ENST00000361492.8:c.4698G>A	ENSP00000354586.4:p.Gly1566=
ENST00000438299.5:c.*2566G>A	ENSP00000400593.1:n.*2566G>A
ENST00000445186.5:c.*3797G>A	ENSP00000397488.1:n.*3797G>A
ENST00000452319.5:c.4698G>A	ENSP00000390436.1:p.Gly1566=
ENST00000452692.5:c.*2515G>A	ENSP00000403715.1:n.*2515G>A
NM_005270.4:c.4698G>A	NP_005261.2:p.Gly1566=
XM_006712422.1:c.4647G>A	XP_006712485.1:p.Gly1549=
XM_011510969.1:c.4680G>A	XP_011509271.1:p.Gly1560=
XM_011510970.1:c.4557G>A	XP_011509272.1:p.Gly1519=
XM_011510971.1:c.4503G>A	XP_011509273.1:p.Gly1501=
XM_011510972.1:c.4503G>A	XP_011509274.1:p.Gly1501=
XM_011510973.1:c.4323G>A	XP_011509275.1:p.Gly1441=
XM_011510974.1:c.4272G>A	XP_011509276.1:p.Gly1424=
XM_006712422.3:c.4647G>A	XP_006712485.1:p.Gly1549=
XM_011510969.2:c.4950G>A	XP_011509271.2:p.Gly1650=
XM_011510970.2:c.4557G>A	XP_011509272.1:p.Gly1519=
XM_011510971.2:c.4503G>A	XP_011509273.1:p.Gly1501=
XM_011510972.2:c.4599G>A	XP_011509274.2:p.Gly1533=
XM_011510973.2:c.4323G>A	XP_011509275.1:p.Gly1441=
XM_011510974.2:c.4272G>A	XP_011509276.1:p.Gly1424=
XM_017003818.1:c.4899G>A	XP_016859307.1:p.Gly1633=
XM_024452794.1:c.4698G>A	XP_024308562.1:p.Gly1566=
XM_024452795.1:c.4698G>A	XP_024308563.1:p.Gly1566=
NM_001371271.1:c.4698G>A	NP_001358200.1:p.Gly1566=
NM_001374353.1:c.4647G>A MANE Select	NP_001361282.1:p.Gly1549=
NM_001374354.1:c.4272G>A	NP_001361283.1:p.Gly1424=
NM_005270.5:c.4698G>A	NP_005261.2:p.Gly1566=