Canonical Allele Identifier: CA1852681

Gene: GLI2

Linked Data

• ClinVar Variation Id: 2924433
• ClinVar RCV Id: RCV003786183
• dbSNP Id: rs200551009
• ExAC: 2:121748162 G / A
• gnomAD v2: 2-121748162-G-A
• gnomAD v3: 2-120990586-G-A
• gnomAD v4: 2-120990586-G-A
• MyVariant Identifiers: chr2:g.121748162G>A (hg19) ; chr2:g.120990586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990586G>A , CM000664.2:g.120990586G>A	GRCh38
NC_000002.11:g.121748162G>A , CM000664.1:g.121748162G>A	GRCh37
NC_000002.10:g.121464632G>A	NCBI36
NG_009030.1:g.198296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4621G>A MANE Select	ENSP00000354586.5:p.Ala1541Thr
ENST00000452319.6:c.4672G>A	ENSP00000390436.1:p.Ala1558Thr
ENST00000341310.10:c.*3720G>A	ENSP00000344473.6:n.*3720G>A
ENST00000361492.8:c.4672G>A	ENSP00000354586.4:p.Ala1558Thr
ENST00000438299.5:c.*2544-4G>A	ENSP00000400593.1:n.*2544-4G>A
ENST00000445186.5:c.*3771G>A	ENSP00000397488.1:n.*3771G>A
ENST00000452319.5:c.4672G>A	ENSP00000390436.1:p.Ala1558Thr
ENST00000452692.5:c.*2493-4G>A	ENSP00000403715.1:n.*2493-4G>A
NM_005270.4:c.4672G>A	NP_005261.2:p.Ala1558Thr
XM_006712422.1:c.4621G>A	XP_006712485.1:p.Ala1541Thr
XM_011510969.1:c.4654G>A	XP_011509271.1:p.Ala1552Thr
XM_011510970.1:c.4531G>A	XP_011509272.1:p.Ala1511Thr
XM_011510971.1:c.4477G>A	XP_011509273.1:p.Ala1493Thr
XM_011510972.1:c.4477G>A	XP_011509274.1:p.Ala1493Thr
XM_011510973.1:c.4297G>A	XP_011509275.1:p.Ala1433Thr
XM_011510974.1:c.4246G>A	XP_011509276.1:p.Ala1416Thr
XM_006712422.3:c.4621G>A	XP_006712485.1:p.Ala1541Thr
XM_011510969.2:c.4924G>A	XP_011509271.2:p.Ala1642Thr
XM_011510970.2:c.4531G>A	XP_011509272.1:p.Ala1511Thr
XM_011510971.2:c.4477G>A	XP_011509273.1:p.Ala1493Thr
XM_011510972.2:c.4573G>A	XP_011509274.2:p.Ala1525Thr
XM_011510973.2:c.4297G>A	XP_011509275.1:p.Ala1433Thr
XM_011510974.2:c.4246G>A	XP_011509276.1:p.Ala1416Thr
XM_017003818.1:c.4873G>A	XP_016859307.1:p.Ala1625Thr
XM_024452794.1:c.4672G>A	XP_024308562.1:p.Ala1558Thr
XM_024452795.1:c.4672G>A	XP_024308563.1:p.Ala1558Thr
NM_001371271.1:c.4672G>A	NP_001358200.1:p.Ala1558Thr
NM_001374353.1:c.4621G>A MANE Select	NP_001361282.1:p.Ala1541Thr
NM_001374354.1:c.4246G>A	NP_001361283.1:p.Ala1416Thr
NM_005270.5:c.4672G>A	NP_005261.2:p.Ala1558Thr