Canonical Allele Identifier: CA348180412

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748226G>C (hg19) ; chr2:g.120990650G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990650G>C , CM000664.2:g.120990650G>C	GRCh38
NC_000002.11:g.121748226G>C , CM000664.1:g.121748226G>C	GRCh37
NC_000002.10:g.121464696G>C	NCBI36
NG_009030.1:g.198360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4685G>C MANE Select	ENSP00000354586.5:p.Ser1562Thr
ENST00000452319.6:c.4736G>C	ENSP00000390436.1:p.Ser1579Thr
ENST00000341310.10:c.*3784G>C	ENSP00000344473.6:n.*3784G>C
ENST00000361492.8:c.4736G>C	ENSP00000354586.4:p.Ser1579Thr
ENST00000438299.5:c.*2604G>C	ENSP00000400593.1:n.*2604G>C
ENST00000445186.5:c.*3835G>C	ENSP00000397488.1:n.*3835G>C
ENST00000452319.5:c.4736G>C	ENSP00000390436.1:p.Ser1579Thr
ENST00000452692.5:c.*2553G>C	ENSP00000403715.1:n.*2553G>C
NM_005270.4:c.4736G>C	NP_005261.2:p.Ser1579Thr
XM_006712422.1:c.4685G>C	XP_006712485.1:p.Ser1562Thr
XM_011510969.1:c.4718G>C	XP_011509271.1:p.Ser1573Thr
XM_011510970.1:c.4595G>C	XP_011509272.1:p.Ser1532Thr
XM_011510971.1:c.4541G>C	XP_011509273.1:p.Ser1514Thr
XM_011510972.1:c.4541G>C	XP_011509274.1:p.Ser1514Thr
XM_011510973.1:c.4361G>C	XP_011509275.1:p.Ser1454Thr
XM_011510974.1:c.4310G>C	XP_011509276.1:p.Ser1437Thr
XM_006712422.3:c.4685G>C	XP_006712485.1:p.Ser1562Thr
XM_011510969.2:c.4988G>C	XP_011509271.2:p.Ser1663Thr
XM_011510970.2:c.4595G>C	XP_011509272.1:p.Ser1532Thr
XM_011510971.2:c.4541G>C	XP_011509273.1:p.Ser1514Thr
XM_011510972.2:c.4637G>C	XP_011509274.2:p.Ser1546Thr
XM_011510973.2:c.4361G>C	XP_011509275.1:p.Ser1454Thr
XM_011510974.2:c.4310G>C	XP_011509276.1:p.Ser1437Thr
XM_017003818.1:c.4937G>C	XP_016859307.1:p.Ser1646Thr
XM_024452794.1:c.4736G>C	XP_024308562.1:p.Ser1579Thr
XM_024452795.1:c.4736G>C	XP_024308563.1:p.Ser1579Thr
NM_001371271.1:c.4736G>C	NP_001358200.1:p.Ser1579Thr
NM_001374353.1:c.4685G>C MANE Select	NP_001361282.1:p.Ser1562Thr
NM_001374354.1:c.4310G>C	NP_001361283.1:p.Ser1437Thr
NM_005270.5:c.4736G>C	NP_005261.2:p.Ser1579Thr