Canonical Allele Identifier: CA348180250

Gene: GLI2

Linked Data

• ClinVar Variation Id: 2486807
• ClinVar RCV Id: RCV003210689
• gnomAD v4: 2-120990601-A-G
• MyVariant Identifiers: chr2:g.121748177A>G (hg19) ; chr2:g.120990601A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990601A>G , CM000664.2:g.120990601A>G	GRCh38
NC_000002.11:g.121748177A>G , CM000664.1:g.121748177A>G	GRCh37
NC_000002.10:g.121464647A>G	NCBI36
NG_009030.1:g.198311A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4636A>G MANE Select	ENSP00000354586.5:p.Met1546Val
ENST00000452319.6:c.4687A>G	ENSP00000390436.1:p.Met1563Val
ENST00000341310.10:c.*3735A>G	ENSP00000344473.6:n.*3735A>G
ENST00000361492.8:c.4687A>G	ENSP00000354586.4:p.Met1563Val
ENST00000438299.5:c.*2555A>G	ENSP00000400593.1:n.*2555A>G
ENST00000445186.5:c.*3786A>G	ENSP00000397488.1:n.*3786A>G
ENST00000452319.5:c.4687A>G	ENSP00000390436.1:p.Met1563Val
ENST00000452692.5:c.*2504A>G	ENSP00000403715.1:n.*2504A>G
NM_005270.4:c.4687A>G	NP_005261.2:p.Met1563Val
XM_006712422.1:c.4636A>G	XP_006712485.1:p.Met1546Val
XM_011510969.1:c.4669A>G	XP_011509271.1:p.Met1557Val
XM_011510970.1:c.4546A>G	XP_011509272.1:p.Met1516Val
XM_011510971.1:c.4492A>G	XP_011509273.1:p.Met1498Val
XM_011510972.1:c.4492A>G	XP_011509274.1:p.Met1498Val
XM_011510973.1:c.4312A>G	XP_011509275.1:p.Met1438Val
XM_011510974.1:c.4261A>G	XP_011509276.1:p.Met1421Val
XM_006712422.3:c.4636A>G	XP_006712485.1:p.Met1546Val
XM_011510969.2:c.4939A>G	XP_011509271.2:p.Met1647Val
XM_011510970.2:c.4546A>G	XP_011509272.1:p.Met1516Val
XM_011510971.2:c.4492A>G	XP_011509273.1:p.Met1498Val
XM_011510972.2:c.4588A>G	XP_011509274.2:p.Met1530Val
XM_011510973.2:c.4312A>G	XP_011509275.1:p.Met1438Val
XM_011510974.2:c.4261A>G	XP_011509276.1:p.Met1421Val
XM_017003818.1:c.4888A>G	XP_016859307.1:p.Met1630Val
XM_024452794.1:c.4687A>G	XP_024308562.1:p.Met1563Val
XM_024452795.1:c.4687A>G	XP_024308563.1:p.Met1563Val
NM_001371271.1:c.4687A>G	NP_001358200.1:p.Met1563Val
NM_001374353.1:c.4636A>G MANE Select	NP_001361282.1:p.Met1546Val
NM_001374354.1:c.4261A>G	NP_001361283.1:p.Met1421Val
NM_005270.5:c.4687A>G	NP_005261.2:p.Met1563Val