Canonical Allele Identifier: CA348174295

Gene: GLI2

Linked Data

• dbSNP Id: rs3738880
• gnomAD v4: 2-120989380-G-A
• MyVariant Identifiers: chr2:g.121746956G>A (hg19) ; chr2:g.120989380G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120989380G>A , CM000664.2:g.120989380G>A	GRCh38
NC_000002.11:g.121746956G>A , CM000664.1:g.121746956G>A	GRCh37
NC_000002.10:g.121463426G>A	NCBI36
NG_009030.1:g.197090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3415G>A MANE Select	ENSP00000354586.5:p.Ala1139Thr
ENST00000452319.6:c.3466G>A	ENSP00000390436.1:p.Ala1156Thr
ENST00000341310.10:c.*2514G>A	ENSP00000344473.6:n.*2514G>A
ENST00000361492.8:c.3466G>A	ENSP00000354586.4:p.Ala1156Thr
ENST00000438299.5:c.*2543+22G>A	ENSP00000400593.1:n.*2543+22G>A
ENST00000445186.5:c.*2565G>A	ENSP00000397488.1:n.*2565G>A
ENST00000452319.5:c.3466G>A	ENSP00000390436.1:p.Ala1156Thr
ENST00000452692.5:c.*2492+22G>A	ENSP00000403715.1:n.*2492+22G>A
NM_005270.4:c.3466G>A	NP_005261.2:p.Ala1156Thr
XM_006712422.1:c.3415G>A	XP_006712485.1:p.Ala1139Thr
XM_011510969.1:c.3448G>A	XP_011509271.1:p.Ala1150Thr
XM_011510970.1:c.3325G>A	XP_011509272.1:p.Ala1109Thr
XM_011510971.1:c.3271G>A	XP_011509273.1:p.Ala1091Thr
XM_011510972.1:c.3271G>A	XP_011509274.1:p.Ala1091Thr
XM_011510973.1:c.3091G>A	XP_011509275.1:p.Ala1031Thr
XM_011510974.1:c.3040G>A	XP_011509276.1:p.Ala1014Thr
XM_006712422.3:c.3415G>A	XP_006712485.1:p.Ala1139Thr
XM_011510969.2:c.3718G>A	XP_011509271.2:p.Ala1240Thr
XM_011510970.2:c.3325G>A	XP_011509272.1:p.Ala1109Thr
XM_011510971.2:c.3271G>A	XP_011509273.1:p.Ala1091Thr
XM_011510972.2:c.3367G>A	XP_011509274.2:p.Ala1123Thr
XM_011510973.2:c.3091G>A	XP_011509275.1:p.Ala1031Thr
XM_011510974.2:c.3040G>A	XP_011509276.1:p.Ala1014Thr
XM_017003818.1:c.3667G>A	XP_016859307.1:p.Ala1223Thr
XM_024452794.1:c.3466G>A	XP_024308562.1:p.Ala1156Thr
XM_024452795.1:c.3466G>A	XP_024308563.1:p.Ala1156Thr
NM_001371271.1:c.3466G>A	NP_001358200.1:p.Ala1156Thr
NM_001374353.1:c.3415G>A MANE Select	NP_001361282.1:p.Ala1139Thr
NM_001374354.1:c.3040G>A	NP_001361283.1:p.Ala1014Thr
NM_005270.5:c.3466G>A	NP_005261.2:p.Ala1156Thr