Canonical Allele Identifier: CA348180294

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748195A>T (hg19) ; chr2:g.120990619A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990619A>T , CM000664.2:g.120990619A>T	GRCh38
NC_000002.11:g.121748195A>T , CM000664.1:g.121748195A>T	GRCh37
NC_000002.10:g.121464665A>T	NCBI36
NG_009030.1:g.198329A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4654A>T MANE Select	ENSP00000354586.5:p.Ser1552Cys
ENST00000452319.6:c.4705A>T	ENSP00000390436.1:p.Ser1569Cys
ENST00000341310.10:c.*3753A>T	ENSP00000344473.6:n.*3753A>T
ENST00000361492.8:c.4705A>T	ENSP00000354586.4:p.Ser1569Cys
ENST00000438299.5:c.*2573A>T	ENSP00000400593.1:n.*2573A>T
ENST00000445186.5:c.*3804A>T	ENSP00000397488.1:n.*3804A>T
ENST00000452319.5:c.4705A>T	ENSP00000390436.1:p.Ser1569Cys
ENST00000452692.5:c.*2522A>T	ENSP00000403715.1:n.*2522A>T
NM_005270.4:c.4705A>T	NP_005261.2:p.Ser1569Cys
XM_006712422.1:c.4654A>T	XP_006712485.1:p.Ser1552Cys
XM_011510969.1:c.4687A>T	XP_011509271.1:p.Ser1563Cys
XM_011510970.1:c.4564A>T	XP_011509272.1:p.Ser1522Cys
XM_011510971.1:c.4510A>T	XP_011509273.1:p.Ser1504Cys
XM_011510972.1:c.4510A>T	XP_011509274.1:p.Ser1504Cys
XM_011510973.1:c.4330A>T	XP_011509275.1:p.Ser1444Cys
XM_011510974.1:c.4279A>T	XP_011509276.1:p.Ser1427Cys
XM_006712422.3:c.4654A>T	XP_006712485.1:p.Ser1552Cys
XM_011510969.2:c.4957A>T	XP_011509271.2:p.Ser1653Cys
XM_011510970.2:c.4564A>T	XP_011509272.1:p.Ser1522Cys
XM_011510971.2:c.4510A>T	XP_011509273.1:p.Ser1504Cys
XM_011510972.2:c.4606A>T	XP_011509274.2:p.Ser1536Cys
XM_011510973.2:c.4330A>T	XP_011509275.1:p.Ser1444Cys
XM_011510974.2:c.4279A>T	XP_011509276.1:p.Ser1427Cys
XM_017003818.1:c.4906A>T	XP_016859307.1:p.Ser1636Cys
XM_024452794.1:c.4705A>T	XP_024308562.1:p.Ser1569Cys
XM_024452795.1:c.4705A>T	XP_024308563.1:p.Ser1569Cys
NM_001371271.1:c.4705A>T	NP_001358200.1:p.Ser1569Cys
NM_001374353.1:c.4654A>T MANE Select	NP_001361282.1:p.Ser1552Cys
NM_001374354.1:c.4279A>T	NP_001361283.1:p.Ser1427Cys
NM_005270.5:c.4705A>T	NP_005261.2:p.Ser1569Cys