Canonical Allele Identifier: CA1852672

Gene: GLI2

Linked Data

• dbSNP Id: rs769826605
• ExAC: 2:121748130 C / G
• gnomAD v2: 2-121748130-C-G
• gnomAD v4: 2-120990554-C-G
• MyVariant Identifiers: chr2:g.121748130C>G (hg19) ; chr2:g.120990554C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990554C>G , CM000664.2:g.120990554C>G	GRCh38
NC_000002.11:g.121748130C>G , CM000664.1:g.121748130C>G	GRCh37
NC_000002.10:g.121464600C>G	NCBI36
NG_009030.1:g.198264C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4589C>G MANE Select	ENSP00000354586.5:p.Pro1530Arg
ENST00000452319.6:c.4640C>G	ENSP00000390436.1:p.Pro1547Arg
ENST00000341310.10:c.*3688C>G	ENSP00000344473.6:n.*3688C>G
ENST00000361492.8:c.4640C>G	ENSP00000354586.4:p.Pro1547Arg
ENST00000438299.5:c.*2544-36C>G	ENSP00000400593.1:n.*2544-36C>G
ENST00000445186.5:c.*3739C>G	ENSP00000397488.1:n.*3739C>G
ENST00000452319.5:c.4640C>G	ENSP00000390436.1:p.Pro1547Arg
ENST00000452692.5:c.*2493-36C>G	ENSP00000403715.1:n.*2493-36C>G
NM_005270.4:c.4640C>G	NP_005261.2:p.Pro1547Arg
XM_006712422.1:c.4589C>G	XP_006712485.1:p.Pro1530Arg
XM_011510969.1:c.4622C>G	XP_011509271.1:p.Pro1541Arg
XM_011510970.1:c.4499C>G	XP_011509272.1:p.Pro1500Arg
XM_011510971.1:c.4445C>G	XP_011509273.1:p.Pro1482Arg
XM_011510972.1:c.4445C>G	XP_011509274.1:p.Pro1482Arg
XM_011510973.1:c.4265C>G	XP_011509275.1:p.Pro1422Arg
XM_011510974.1:c.4214C>G	XP_011509276.1:p.Pro1405Arg
XM_006712422.3:c.4589C>G	XP_006712485.1:p.Pro1530Arg
XM_011510969.2:c.4892C>G	XP_011509271.2:p.Pro1631Arg
XM_011510970.2:c.4499C>G	XP_011509272.1:p.Pro1500Arg
XM_011510971.2:c.4445C>G	XP_011509273.1:p.Pro1482Arg
XM_011510972.2:c.4541C>G	XP_011509274.2:p.Pro1514Arg
XM_011510973.2:c.4265C>G	XP_011509275.1:p.Pro1422Arg
XM_011510974.2:c.4214C>G	XP_011509276.1:p.Pro1405Arg
XM_017003818.1:c.4841C>G	XP_016859307.1:p.Pro1614Arg
XM_024452794.1:c.4640C>G	XP_024308562.1:p.Pro1547Arg
XM_024452795.1:c.4640C>G	XP_024308563.1:p.Pro1547Arg
NM_001371271.1:c.4640C>G	NP_001358200.1:p.Pro1547Arg
NM_001374353.1:c.4589C>G MANE Select	NP_001361282.1:p.Pro1530Arg
NM_001374354.1:c.4214C>G	NP_001361283.1:p.Pro1405Arg
NM_005270.5:c.4640C>G	NP_005261.2:p.Pro1547Arg