Canonical Allele Identifier: CA348180053

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748078A>T (hg19) ; chr2:g.120990502A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990502A>T , CM000664.2:g.120990502A>T	GRCh38
NC_000002.11:g.121748078A>T , CM000664.1:g.121748078A>T	GRCh37
NC_000002.10:g.121464548A>T	NCBI36
NG_009030.1:g.198212A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4537A>T MANE Select	ENSP00000354586.5:p.Ser1513Cys
ENST00000452319.6:c.4588A>T	ENSP00000390436.1:p.Ser1530Cys
ENST00000341310.10:c.*3636A>T	ENSP00000344473.6:n.*3636A>T
ENST00000361492.8:c.4588A>T	ENSP00000354586.4:p.Ser1530Cys
ENST00000438299.5:c.*2544-88A>T	ENSP00000400593.1:n.*2544-88A>T
ENST00000445186.5:c.*3687A>T	ENSP00000397488.1:n.*3687A>T
ENST00000452319.5:c.4588A>T	ENSP00000390436.1:p.Ser1530Cys
ENST00000452692.5:c.*2493-88A>T	ENSP00000403715.1:n.*2493-88A>T
NM_005270.4:c.4588A>T	NP_005261.2:p.Ser1530Cys
XM_006712422.1:c.4537A>T	XP_006712485.1:p.Ser1513Cys
XM_011510969.1:c.4570A>T	XP_011509271.1:p.Ser1524Cys
XM_011510970.1:c.4447A>T	XP_011509272.1:p.Ser1483Cys
XM_011510971.1:c.4393A>T	XP_011509273.1:p.Ser1465Cys
XM_011510972.1:c.4393A>T	XP_011509274.1:p.Ser1465Cys
XM_011510973.1:c.4213A>T	XP_011509275.1:p.Ser1405Cys
XM_011510974.1:c.4162A>T	XP_011509276.1:p.Ser1388Cys
XM_006712422.3:c.4537A>T	XP_006712485.1:p.Ser1513Cys
XM_011510969.2:c.4840A>T	XP_011509271.2:p.Ser1614Cys
XM_011510970.2:c.4447A>T	XP_011509272.1:p.Ser1483Cys
XM_011510971.2:c.4393A>T	XP_011509273.1:p.Ser1465Cys
XM_011510972.2:c.4489A>T	XP_011509274.2:p.Ser1497Cys
XM_011510973.2:c.4213A>T	XP_011509275.1:p.Ser1405Cys
XM_011510974.2:c.4162A>T	XP_011509276.1:p.Ser1388Cys
XM_017003818.1:c.4789A>T	XP_016859307.1:p.Ser1597Cys
XM_024452794.1:c.4588A>T	XP_024308562.1:p.Ser1530Cys
XM_024452795.1:c.4588A>T	XP_024308563.1:p.Ser1530Cys
NM_001371271.1:c.4588A>T	NP_001358200.1:p.Ser1530Cys
NM_001374353.1:c.4537A>T MANE Select	NP_001361282.1:p.Ser1513Cys
NM_001374354.1:c.4162A>T	NP_001361283.1:p.Ser1388Cys
NM_005270.5:c.4588A>T	NP_005261.2:p.Ser1530Cys