Canonical Allele Identifier: CA1852324

Gene: GLI2

Linked Data

• ClinVar Variation Id: 2931060
• ClinVar RCV Id: RCV003782322
• dbSNP Id: rs769291089
• ExAC: 2:121746658 G / A
• gnomAD v2: 2-121746658-G-A
• gnomAD v3: 2-120989082-G-A
• gnomAD v4: 2-120989082-G-A
• MyVariant Identifiers: chr2:g.121746658G>A (hg19) ; chr2:g.120989082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989082G>A , CM000664.2:g.120989082G>A	GRCh38
NC_000002.11:g.121746658G>A , CM000664.1:g.121746658G>A	GRCh37
NC_000002.10:g.121463128G>A	NCBI36
NG_009030.1:g.196792G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3117G>A MANE Select	ENSP00000354586.5:p.Pro1039=
ENST00000452319.6:c.3168G>A	ENSP00000390436.1:p.Pro1056=
ENST00000341310.10:c.*2216G>A	ENSP00000344473.6:n.*2216G>A
ENST00000361492.8:c.3168G>A	ENSP00000354586.4:p.Pro1056=
ENST00000438299.5:c.*2267G>A	ENSP00000400593.1:n.*2267G>A
ENST00000445186.5:c.*2267G>A	ENSP00000397488.1:n.*2267G>A
ENST00000452319.5:c.3168G>A	ENSP00000390436.1:p.Pro1056=
ENST00000452692.5:c.*2216G>A	ENSP00000403715.1:n.*2216G>A
NM_005270.4:c.3168G>A	NP_005261.2:p.Pro1056=
XM_006712422.1:c.3117G>A	XP_006712485.1:p.Pro1039=
XM_011510969.1:c.3150G>A	XP_011509271.1:p.Pro1050=
XM_011510970.1:c.3027G>A	XP_011509272.1:p.Pro1009=
XM_011510971.1:c.2973G>A	XP_011509273.1:p.Pro991=
XM_011510972.1:c.2973G>A	XP_011509274.1:p.Pro991=
XM_011510973.1:c.2793G>A	XP_011509275.1:p.Pro931=
XM_011510974.1:c.2742G>A	XP_011509276.1:p.Pro914=
XM_006712422.3:c.3117G>A	XP_006712485.1:p.Pro1039=
XM_011510969.2:c.3420G>A	XP_011509271.2:p.Pro1140=
XM_011510970.2:c.3027G>A	XP_011509272.1:p.Pro1009=
XM_011510971.2:c.2973G>A	XP_011509273.1:p.Pro991=
XM_011510972.2:c.3069G>A	XP_011509274.2:p.Pro1023=
XM_011510973.2:c.2793G>A	XP_011509275.1:p.Pro931=
XM_011510974.2:c.2742G>A	XP_011509276.1:p.Pro914=
XM_017003818.1:c.3369G>A	XP_016859307.1:p.Pro1123=
XM_024452794.1:c.3168G>A	XP_024308562.1:p.Pro1056=
XM_024452795.1:c.3168G>A	XP_024308563.1:p.Pro1056=
NM_001371271.1:c.3168G>A	NP_001358200.1:p.Pro1056=
NM_001374353.1:c.3117G>A MANE Select	NP_001361282.1:p.Pro1039=
NM_001374354.1:c.2742G>A	NP_001361283.1:p.Pro914=
NM_005270.5:c.3168G>A	NP_005261.2:p.Pro1056=