Canonical Allele Identifier: CA348180295

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748196G>C (hg19) ; chr2:g.120990620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990620G>C , CM000664.2:g.120990620G>C	GRCh38
NC_000002.11:g.121748196G>C , CM000664.1:g.121748196G>C	GRCh37
NC_000002.10:g.121464666G>C	NCBI36
NG_009030.1:g.198330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4655G>C MANE Select	ENSP00000354586.5:p.Ser1552Thr
ENST00000452319.6:c.4706G>C	ENSP00000390436.1:p.Ser1569Thr
ENST00000341310.10:c.*3754G>C	ENSP00000344473.6:n.*3754G>C
ENST00000361492.8:c.4706G>C	ENSP00000354586.4:p.Ser1569Thr
ENST00000438299.5:c.*2574G>C	ENSP00000400593.1:n.*2574G>C
ENST00000445186.5:c.*3805G>C	ENSP00000397488.1:n.*3805G>C
ENST00000452319.5:c.4706G>C	ENSP00000390436.1:p.Ser1569Thr
ENST00000452692.5:c.*2523G>C	ENSP00000403715.1:n.*2523G>C
NM_005270.4:c.4706G>C	NP_005261.2:p.Ser1569Thr
XM_006712422.1:c.4655G>C	XP_006712485.1:p.Ser1552Thr
XM_011510969.1:c.4688G>C	XP_011509271.1:p.Ser1563Thr
XM_011510970.1:c.4565G>C	XP_011509272.1:p.Ser1522Thr
XM_011510971.1:c.4511G>C	XP_011509273.1:p.Ser1504Thr
XM_011510972.1:c.4511G>C	XP_011509274.1:p.Ser1504Thr
XM_011510973.1:c.4331G>C	XP_011509275.1:p.Ser1444Thr
XM_011510974.1:c.4280G>C	XP_011509276.1:p.Ser1427Thr
XM_006712422.3:c.4655G>C	XP_006712485.1:p.Ser1552Thr
XM_011510969.2:c.4958G>C	XP_011509271.2:p.Ser1653Thr
XM_011510970.2:c.4565G>C	XP_011509272.1:p.Ser1522Thr
XM_011510971.2:c.4511G>C	XP_011509273.1:p.Ser1504Thr
XM_011510972.2:c.4607G>C	XP_011509274.2:p.Ser1536Thr
XM_011510973.2:c.4331G>C	XP_011509275.1:p.Ser1444Thr
XM_011510974.2:c.4280G>C	XP_011509276.1:p.Ser1427Thr
XM_017003818.1:c.4907G>C	XP_016859307.1:p.Ser1636Thr
XM_024452794.1:c.4706G>C	XP_024308562.1:p.Ser1569Thr
XM_024452795.1:c.4706G>C	XP_024308563.1:p.Ser1569Thr
NM_001371271.1:c.4706G>C	NP_001358200.1:p.Ser1569Thr
NM_001374353.1:c.4655G>C MANE Select	NP_001361282.1:p.Ser1552Thr
NM_001374354.1:c.4280G>C	NP_001361283.1:p.Ser1427Thr
NM_005270.5:c.4706G>C	NP_005261.2:p.Ser1569Thr