Canonical Allele Identifier: CA148367

Gene: GLI2

Linked Data

• ClinVar Variation Id: 95271
• ClinVar RCV Id: RCV001650921 ; RCV001701658 ; RCV002055195
• dbSNP Id: rs3738880
• ExAC: 2:121746956 G / T
• gnomAD v2: 2-121746956-G-T
• gnomAD v3: 2-120989380-G-T
• gnomAD v4: 2-120989380-G-T
• MyVariant Identifiers: chr2:g.121746956G>T (hg19) ; chr2:g.120989380G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000361492.9:c.3415G>T MANE Select	ENSP00000354586.5:p.Ala1139Ser
ENST00000452319.6:c.3466G>T	ENSP00000390436.1:p.Ala1156Ser
ENST00000341310.10:c.*2514G>T	ENSP00000344473.6:n.*2514G>T
ENST00000361492.8:c.3466G>T	ENSP00000354586.4:p.Ala1156Ser
ENST00000438299.5:c.*2543+22G>T	ENSP00000400593.1:n.*2543+22G>T
ENST00000445186.5:c.*2565G>T	ENSP00000397488.1:n.*2565G>T
ENST00000452319.5:c.3466G>T	ENSP00000390436.1:p.Ala1156Ser
ENST00000452692.5:c.*2492+22G>T	ENSP00000403715.1:n.*2492+22G>T
NM_005270.4:c.3466G>T	NP_005261.2:p.Ala1156Ser
XM_006712422.1:c.3415G>T	XP_006712485.1:p.Ala1139Ser
XM_011510969.1:c.3448G>T	XP_011509271.1:p.Ala1150Ser
XM_011510970.1:c.3325G>T	XP_011509272.1:p.Ala1109Ser
XM_011510971.1:c.3271G>T	XP_011509273.1:p.Ala1091Ser
XM_011510972.1:c.3271G>T	XP_011509274.1:p.Ala1091Ser
XM_011510973.1:c.3091G>T	XP_011509275.1:p.Ala1031Ser
XM_011510974.1:c.3040G>T	XP_011509276.1:p.Ala1014Ser
XM_006712422.3:c.3415G>T	XP_006712485.1:p.Ala1139Ser
XM_011510969.2:c.3718G>T	XP_011509271.2:p.Ala1240Ser
XM_011510970.2:c.3325G>T	XP_011509272.1:p.Ala1109Ser
XM_011510971.2:c.3271G>T	XP_011509273.1:p.Ala1091Ser
XM_011510972.2:c.3367G>T	XP_011509274.2:p.Ala1123Ser
XM_011510973.2:c.3091G>T	XP_011509275.1:p.Ala1031Ser
XM_011510974.2:c.3040G>T	XP_011509276.1:p.Ala1014Ser
XM_017003818.1:c.3667G>T	XP_016859307.1:p.Ala1223Ser
XM_024452794.1:c.3466G>T	XP_024308562.1:p.Ala1156Ser
XM_024452795.1:c.3466G>T	XP_024308563.1:p.Ala1156Ser
NM_001371271.1:c.3466G>T	NP_001358200.1:p.Ala1156Ser
NM_001374353.1:c.3415G>T MANE Select	NP_001361282.1:p.Ala1139Ser
NM_001374354.1:c.3040G>T	NP_001361283.1:p.Ala1014Ser
NM_005270.5:c.3466G>T	NP_005261.2:p.Ala1156Ser