Canonical Allele Identifier: CA348180138

Gene: GLI2

Linked Data

• MyVariant Identifiers: chr2:g.121748118G>C (hg19) ; chr2:g.120990542G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990542G>C , CM000664.2:g.120990542G>C	GRCh38
NC_000002.11:g.121748118G>C , CM000664.1:g.121748118G>C	GRCh37
NC_000002.10:g.121464588G>C	NCBI36
NG_009030.1:g.198252G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4577G>C MANE Select	ENSP00000354586.5:p.Arg1526Pro
ENST00000452319.6:c.4628G>C	ENSP00000390436.1:p.Arg1543Pro
ENST00000341310.10:c.*3676G>C	ENSP00000344473.6:n.*3676G>C
ENST00000361492.8:c.4628G>C	ENSP00000354586.4:p.Arg1543Pro
ENST00000438299.5:c.*2544-48G>C	ENSP00000400593.1:n.*2544-48G>C
ENST00000445186.5:c.*3727G>C	ENSP00000397488.1:n.*3727G>C
ENST00000452319.5:c.4628G>C	ENSP00000390436.1:p.Arg1543Pro
ENST00000452692.5:c.*2493-48G>C	ENSP00000403715.1:n.*2493-48G>C
NM_005270.4:c.4628G>C	NP_005261.2:p.Arg1543Pro
XM_006712422.1:c.4577G>C	XP_006712485.1:p.Arg1526Pro
XM_011510969.1:c.4610G>C	XP_011509271.1:p.Arg1537Pro
XM_011510970.1:c.4487G>C	XP_011509272.1:p.Arg1496Pro
XM_011510971.1:c.4433G>C	XP_011509273.1:p.Arg1478Pro
XM_011510972.1:c.4433G>C	XP_011509274.1:p.Arg1478Pro
XM_011510973.1:c.4253G>C	XP_011509275.1:p.Arg1418Pro
XM_011510974.1:c.4202G>C	XP_011509276.1:p.Arg1401Pro
XM_006712422.3:c.4577G>C	XP_006712485.1:p.Arg1526Pro
XM_011510969.2:c.4880G>C	XP_011509271.2:p.Arg1627Pro
XM_011510970.2:c.4487G>C	XP_011509272.1:p.Arg1496Pro
XM_011510971.2:c.4433G>C	XP_011509273.1:p.Arg1478Pro
XM_011510972.2:c.4529G>C	XP_011509274.2:p.Arg1510Pro
XM_011510973.2:c.4253G>C	XP_011509275.1:p.Arg1418Pro
XM_011510974.2:c.4202G>C	XP_011509276.1:p.Arg1401Pro
XM_017003818.1:c.4829G>C	XP_016859307.1:p.Arg1610Pro
XM_024452794.1:c.4628G>C	XP_024308562.1:p.Arg1543Pro
XM_024452795.1:c.4628G>C	XP_024308563.1:p.Arg1543Pro
NM_001371271.1:c.4628G>C	NP_001358200.1:p.Arg1543Pro
NM_001374353.1:c.4577G>C MANE Select	NP_001361282.1:p.Arg1526Pro
NM_001374354.1:c.4202G>C	NP_001361283.1:p.Arg1401Pro
NM_005270.5:c.4628G>C	NP_005261.2:p.Arg1543Pro