Canonical Allele Identifier: CA1852688

Gene: GLI2

Linked Data

• ClinVar Variation Id: 1935327
• ClinVar RCV Id: RCV002638983
• dbSNP Id: rs762886402
• ExAC: 2:121748218 C / T
• gnomAD v2: 2-121748218-C-T
• gnomAD v3: 2-120990642-C-T
• gnomAD v4: 2-120990642-C-T
• MyVariant Identifiers: chr2:g.121748218C>T (hg19) ; chr2:g.120990642C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990642C>T , CM000664.2:g.120990642C>T	GRCh38
NC_000002.11:g.121748218C>T , CM000664.1:g.121748218C>T	GRCh37
NC_000002.10:g.121464688C>T	NCBI36
NG_009030.1:g.198352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4677C>T MANE Select	ENSP00000354586.5:p.Ala1559=
ENST00000452319.6:c.4728C>T	ENSP00000390436.1:p.Ala1576=
ENST00000341310.10:c.*3776C>T	ENSP00000344473.6:n.*3776C>T
ENST00000361492.8:c.4728C>T	ENSP00000354586.4:p.Ala1576=
ENST00000438299.5:c.*2596C>T	ENSP00000400593.1:n.*2596C>T
ENST00000445186.5:c.*3827C>T	ENSP00000397488.1:n.*3827C>T
ENST00000452319.5:c.4728C>T	ENSP00000390436.1:p.Ala1576=
ENST00000452692.5:c.*2545C>T	ENSP00000403715.1:n.*2545C>T
NM_005270.4:c.4728C>T	NP_005261.2:p.Ala1576=
XM_006712422.1:c.4677C>T	XP_006712485.1:p.Ala1559=
XM_011510969.1:c.4710C>T	XP_011509271.1:p.Ala1570=
XM_011510970.1:c.4587C>T	XP_011509272.1:p.Ala1529=
XM_011510971.1:c.4533C>T	XP_011509273.1:p.Ala1511=
XM_011510972.1:c.4533C>T	XP_011509274.1:p.Ala1511=
XM_011510973.1:c.4353C>T	XP_011509275.1:p.Ala1451=
XM_011510974.1:c.4302C>T	XP_011509276.1:p.Ala1434=
XM_006712422.3:c.4677C>T	XP_006712485.1:p.Ala1559=
XM_011510969.2:c.4980C>T	XP_011509271.2:p.Ala1660=
XM_011510970.2:c.4587C>T	XP_011509272.1:p.Ala1529=
XM_011510971.2:c.4533C>T	XP_011509273.1:p.Ala1511=
XM_011510972.2:c.4629C>T	XP_011509274.2:p.Ala1543=
XM_011510973.2:c.4353C>T	XP_011509275.1:p.Ala1451=
XM_011510974.2:c.4302C>T	XP_011509276.1:p.Ala1434=
XM_017003818.1:c.4929C>T	XP_016859307.1:p.Ala1643=
XM_024452794.1:c.4728C>T	XP_024308562.1:p.Ala1576=
XM_024452795.1:c.4728C>T	XP_024308563.1:p.Ala1576=
NM_001371271.1:c.4728C>T	NP_001358200.1:p.Ala1576=
NM_001374353.1:c.4677C>T MANE Select	NP_001361282.1:p.Ala1559=
NM_001374354.1:c.4302C>T	NP_001361283.1:p.Ala1434=
NM_005270.5:c.4728C>T	NP_005261.2:p.Ala1576=