Canonical Allele Identifier: CA1851915

Gene: GLI2

Linked Data

• ClinVar Variation Id: 2177755
• ClinVar RCV Id: RCV002588342 ; RCV003134659
• dbSNP Id: rs750260084
• ExAC: 2:121736139 G / A
• gnomAD v2: 2-121736139-G-A
• gnomAD v3: 2-120978563-G-A
• gnomAD v4: 2-120978563-G-A
• MyVariant Identifiers: chr2:g.121736139G>A (hg19) ; chr2:g.120978563G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120978563G>A , CM000664.2:g.120978563G>A	GRCh38
NC_000002.11:g.121736139G>A , CM000664.1:g.121736139G>A	GRCh37
NC_000002.10:g.121452609G>A	NCBI36
NG_009030.1:g.186273G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.1447G>A MANE Select	ENSP00000354586.5:p.Glu483Lys
ENST00000452319.6:c.1498G>A	ENSP00000390436.1:p.Glu500Lys
ENST00000314490.15:c.511G>A	ENSP00000312694.12:p.Glu171Lys
ENST00000341310.10:c.*546G>A	ENSP00000344473.6:n.*546G>A
ENST00000361492.8:c.1498G>A	ENSP00000354586.4:p.Glu500Lys
ENST00000435313.6:n.1472G>A
ENST00000437950.5:c.*597G>A	ENSP00000415773.1:n.*597G>A
ENST00000438299.5:c.*597G>A	ENSP00000400593.1:n.*597G>A
ENST00000445186.5:c.*597G>A	ENSP00000397488.1:n.*597G>A
ENST00000452319.5:c.1498G>A	ENSP00000390436.1:p.Glu500Lys
ENST00000452692.5:c.*546G>A	ENSP00000403715.1:n.*546G>A
NM_005270.4:c.1498G>A	NP_005261.2:p.Glu500Lys
XM_006712422.1:c.1447G>A	XP_006712485.1:p.Glu483Lys
XM_011510969.1:c.1480G>A	XP_011509271.1:p.Glu494Lys
XM_011510970.1:c.1357G>A	XP_011509272.1:p.Glu453Lys
XM_011510971.1:c.1303G>A	XP_011509273.1:p.Glu435Lys
XM_011510972.1:c.1303G>A	XP_011509274.1:p.Glu435Lys
XM_011510973.1:c.1123G>A	XP_011509275.1:p.Glu375Lys
XM_011510974.1:c.1072G>A	XP_011509276.1:p.Glu358Lys
XM_006712422.3:c.1447G>A	XP_006712485.1:p.Glu483Lys
XM_011510969.2:c.1750G>A	XP_011509271.2:p.Glu584Lys
XM_011510970.2:c.1357G>A	XP_011509272.1:p.Glu453Lys
XM_011510971.2:c.1303G>A	XP_011509273.1:p.Glu435Lys
XM_011510972.2:c.1399G>A	XP_011509274.2:p.Glu467Lys
XM_011510973.2:c.1123G>A	XP_011509275.1:p.Glu375Lys
XM_011510974.2:c.1072G>A	XP_011509276.1:p.Glu358Lys
XM_017003818.1:c.1699G>A	XP_016859307.1:p.Glu567Lys
XM_024452794.1:c.1498G>A	XP_024308562.1:p.Glu500Lys
XM_024452795.1:c.1498G>A	XP_024308563.1:p.Glu500Lys
NM_001371271.1:c.1498G>A	NP_001358200.1:p.Glu500Lys
NM_001374353.1:c.1447G>A MANE Select	NP_001361282.1:p.Glu483Lys
NM_001374354.1:c.1072G>A	NP_001361283.1:p.Glu358Lys
NM_005270.5:c.1498G>A	NP_005261.2:p.Glu500Lys