Canonical Allele Identifier: CA348180450

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748232T>G (hg19) ; chr2:g.120990656T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990656T>G , CM000664.2:g.120990656T>G	GRCh38
NC_000002.11:g.121748232T>G , CM000664.1:g.121748232T>G	GRCh37
NC_000002.10:g.121464702T>G	NCBI36
NG_009030.1:g.198366T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4691T>G MANE Select	ENSP00000354586.5:p.Phe1564Cys
ENST00000452319.6:c.4742T>G	ENSP00000390436.1:p.Phe1581Cys
ENST00000341310.10:c.*3790T>G	ENSP00000344473.6:n.*3790T>G
ENST00000361492.8:c.4742T>G	ENSP00000354586.4:p.Phe1581Cys
ENST00000438299.5:c.*2610T>G	ENSP00000400593.1:n.*2610T>G
ENST00000445186.5:c.*3841T>G	ENSP00000397488.1:n.*3841T>G
ENST00000452319.5:c.4742T>G	ENSP00000390436.1:p.Phe1581Cys
ENST00000452692.5:c.*2559T>G	ENSP00000403715.1:n.*2559T>G
NM_005270.4:c.4742T>G	NP_005261.2:p.Phe1581Cys
XM_006712422.1:c.4691T>G	XP_006712485.1:p.Phe1564Cys
XM_011510969.1:c.4724T>G	XP_011509271.1:p.Phe1575Cys
XM_011510970.1:c.4601T>G	XP_011509272.1:p.Phe1534Cys
XM_011510971.1:c.4547T>G	XP_011509273.1:p.Phe1516Cys
XM_011510972.1:c.4547T>G	XP_011509274.1:p.Phe1516Cys
XM_011510973.1:c.4367T>G	XP_011509275.1:p.Phe1456Cys
XM_011510974.1:c.4316T>G	XP_011509276.1:p.Phe1439Cys
XM_006712422.3:c.4691T>G	XP_006712485.1:p.Phe1564Cys
XM_011510969.2:c.4994T>G	XP_011509271.2:p.Phe1665Cys
XM_011510970.2:c.4601T>G	XP_011509272.1:p.Phe1534Cys
XM_011510971.2:c.4547T>G	XP_011509273.1:p.Phe1516Cys
XM_011510972.2:c.4643T>G	XP_011509274.2:p.Phe1548Cys
XM_011510973.2:c.4367T>G	XP_011509275.1:p.Phe1456Cys
XM_011510974.2:c.4316T>G	XP_011509276.1:p.Phe1439Cys
XM_017003818.1:c.4943T>G	XP_016859307.1:p.Phe1648Cys
XM_024452794.1:c.4742T>G	XP_024308562.1:p.Phe1581Cys
XM_024452795.1:c.4742T>G	XP_024308563.1:p.Phe1581Cys
NM_001371271.1:c.4742T>G	NP_001358200.1:p.Phe1581Cys
NM_001374353.1:c.4691T>G MANE Select	NP_001361282.1:p.Phe1564Cys
NM_001374354.1:c.4316T>G	NP_001361283.1:p.Phe1439Cys
NM_005270.5:c.4742T>G	NP_005261.2:p.Phe1581Cys