Canonical Allele Identifier: CA201056

Gene: GLI2

Linked Data

• ClinVar Variation Id: 37084
• ClinVar RCV Id: RCV000030731 ; RCV000174553 ; RCV000548311 ; RCV001541226
• dbSNP Id: rs114814747
• ExAC: 2:121748048 G / A
• gnomAD v2: 2-121748048-G-A
• gnomAD v3: 2-120990472-G-A
• gnomAD v4: 2-120990472-G-A
• MyVariant Identifiers: chr2:g.121748048G>A (hg19) ; chr2:g.120990472G>A (hg38)
• PubMed: PMID:21204792

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990472G>A , CM000664.2:g.120990472G>A	GRCh38
NC_000002.11:g.121748048G>A , CM000664.1:g.121748048G>A	GRCh37
NC_000002.10:g.121464518G>A	NCBI36
NG_009030.1:g.198182G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.4507G>A MANE Select	ENSP00000354586.5:p.Asp1503Asn
ENST00000452319.6:c.4558G>A	ENSP00000390436.1:p.Asp1520Asn
ENST00000341310.10:c.*3606G>A	ENSP00000344473.6:n.*3606G>A
ENST00000361492.8:c.4558G>A	ENSP00000354586.4:p.Asp1520Asn
ENST00000438299.5:c.*2544-118G>A	ENSP00000400593.1:n.*2544-118G>A
ENST00000445186.5:c.*3657G>A	ENSP00000397488.1:n.*3657G>A
ENST00000452319.5:c.4558G>A	ENSP00000390436.1:p.Asp1520Asn
ENST00000452692.5:c.*2493-118G>A	ENSP00000403715.1:n.*2493-118G>A
NM_005270.4:c.4558G>A	NP_005261.2:p.Asp1520Asn
XM_006712422.1:c.4507G>A	XP_006712485.1:p.Asp1503Asn
XM_011510969.1:c.4540G>A	XP_011509271.1:p.Asp1514Asn
XM_011510970.1:c.4417G>A	XP_011509272.1:p.Asp1473Asn
XM_011510971.1:c.4363G>A	XP_011509273.1:p.Asp1455Asn
XM_011510972.1:c.4363G>A	XP_011509274.1:p.Asp1455Asn
XM_011510973.1:c.4183G>A	XP_011509275.1:p.Asp1395Asn
XM_011510974.1:c.4132G>A	XP_011509276.1:p.Asp1378Asn
XM_006712422.3:c.4507G>A	XP_006712485.1:p.Asp1503Asn
XM_011510969.2:c.4810G>A	XP_011509271.2:p.Asp1604Asn
XM_011510970.2:c.4417G>A	XP_011509272.1:p.Asp1473Asn
XM_011510971.2:c.4363G>A	XP_011509273.1:p.Asp1455Asn
XM_011510972.2:c.4459G>A	XP_011509274.2:p.Asp1487Asn
XM_011510973.2:c.4183G>A	XP_011509275.1:p.Asp1395Asn
XM_011510974.2:c.4132G>A	XP_011509276.1:p.Asp1378Asn
XM_017003818.1:c.4759G>A	XP_016859307.1:p.Asp1587Asn
XM_024452794.1:c.4558G>A	XP_024308562.1:p.Asp1520Asn
XM_024452795.1:c.4558G>A	XP_024308563.1:p.Asp1520Asn
NM_001371271.1:c.4558G>A	NP_001358200.1:p.Asp1520Asn
NM_001374353.1:c.4507G>A MANE Select	NP_001361282.1:p.Asp1503Asn
NM_001374354.1:c.4132G>A	NP_001361283.1:p.Asp1378Asn
NM_005270.5:c.4558G>A	NP_005261.2:p.Asp1520Asn