Canonical Allele Identifier: CA348173162

Gene: GLI2

Linked Data

• dbSNP Id: rs1683151650
• MyVariant Identifiers: chr2:g.121746761A>G (hg19) ; chr2:g.120989185A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989185A>G , CM000664.2:g.120989185A>G	GRCh38
NC_000002.11:g.121746761A>G , CM000664.1:g.121746761A>G	GRCh37
NC_000002.10:g.121463231A>G	NCBI36
NG_009030.1:g.196895A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3220A>G MANE Select	ENSP00000354586.5:p.Thr1074Ala
ENST00000452319.6:c.3271A>G	ENSP00000390436.1:p.Thr1091Ala
ENST00000341310.10:c.*2319A>G	ENSP00000344473.6:n.*2319A>G
ENST00000361492.8:c.3271A>G	ENSP00000354586.4:p.Thr1091Ala
ENST00000438299.5:c.*2370A>G	ENSP00000400593.1:n.*2370A>G
ENST00000445186.5:c.*2370A>G	ENSP00000397488.1:n.*2370A>G
ENST00000452319.5:c.3271A>G	ENSP00000390436.1:p.Thr1091Ala
ENST00000452692.5:c.*2319A>G	ENSP00000403715.1:n.*2319A>G
NM_005270.4:c.3271A>G	NP_005261.2:p.Thr1091Ala
XM_006712422.1:c.3220A>G	XP_006712485.1:p.Thr1074Ala
XM_011510969.1:c.3253A>G	XP_011509271.1:p.Thr1085Ala
XM_011510970.1:c.3130A>G	XP_011509272.1:p.Thr1044Ala
XM_011510971.1:c.3076A>G	XP_011509273.1:p.Thr1026Ala
XM_011510972.1:c.3076A>G	XP_011509274.1:p.Thr1026Ala
XM_011510973.1:c.2896A>G	XP_011509275.1:p.Thr966Ala
XM_011510974.1:c.2845A>G	XP_011509276.1:p.Thr949Ala
XM_006712422.3:c.3220A>G	XP_006712485.1:p.Thr1074Ala
XM_011510969.2:c.3523A>G	XP_011509271.2:p.Thr1175Ala
XM_011510970.2:c.3130A>G	XP_011509272.1:p.Thr1044Ala
XM_011510971.2:c.3076A>G	XP_011509273.1:p.Thr1026Ala
XM_011510972.2:c.3172A>G	XP_011509274.2:p.Thr1058Ala
XM_011510973.2:c.2896A>G	XP_011509275.1:p.Thr966Ala
XM_011510974.2:c.2845A>G	XP_011509276.1:p.Thr949Ala
XM_017003818.1:c.3472A>G	XP_016859307.1:p.Thr1158Ala
XM_024452794.1:c.3271A>G	XP_024308562.1:p.Thr1091Ala
XM_024452795.1:c.3271A>G	XP_024308563.1:p.Thr1091Ala
NM_001371271.1:c.3271A>G	NP_001358200.1:p.Thr1091Ala
NM_001374353.1:c.3220A>G MANE Select	NP_001361282.1:p.Thr1074Ala
NM_001374354.1:c.2845A>G	NP_001361283.1:p.Thr949Ala
NM_005270.5:c.3271A>G	NP_005261.2:p.Thr1091Ala