Canonical Allele Identifier: CA348180263

Gene: GLI2

Linked Data

• gnomAD v4: 2-120990605-C-T
• MyVariant Identifiers: chr2:g.121748181C>T (hg19) ; chr2:g.120990605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990605C>T , CM000664.2:g.120990605C>T	GRCh38
NC_000002.11:g.121748181C>T , CM000664.1:g.121748181C>T	GRCh37
NC_000002.10:g.121464651C>T	NCBI36
NG_009030.1:g.198315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4640C>T MANE Select	ENSP00000354586.5:p.Ala1547Val
ENST00000452319.6:c.4691C>T	ENSP00000390436.1:p.Ala1564Val
ENST00000341310.10:c.*3739C>T	ENSP00000344473.6:n.*3739C>T
ENST00000361492.8:c.4691C>T	ENSP00000354586.4:p.Ala1564Val
ENST00000438299.5:c.*2559C>T	ENSP00000400593.1:n.*2559C>T
ENST00000445186.5:c.*3790C>T	ENSP00000397488.1:n.*3790C>T
ENST00000452319.5:c.4691C>T	ENSP00000390436.1:p.Ala1564Val
ENST00000452692.5:c.*2508C>T	ENSP00000403715.1:n.*2508C>T
NM_005270.4:c.4691C>T	NP_005261.2:p.Ala1564Val
XM_006712422.1:c.4640C>T	XP_006712485.1:p.Ala1547Val
XM_011510969.1:c.4673C>T	XP_011509271.1:p.Ala1558Val
XM_011510970.1:c.4550C>T	XP_011509272.1:p.Ala1517Val
XM_011510971.1:c.4496C>T	XP_011509273.1:p.Ala1499Val
XM_011510972.1:c.4496C>T	XP_011509274.1:p.Ala1499Val
XM_011510973.1:c.4316C>T	XP_011509275.1:p.Ala1439Val
XM_011510974.1:c.4265C>T	XP_011509276.1:p.Ala1422Val
XM_006712422.3:c.4640C>T	XP_006712485.1:p.Ala1547Val
XM_011510969.2:c.4943C>T	XP_011509271.2:p.Ala1648Val
XM_011510970.2:c.4550C>T	XP_011509272.1:p.Ala1517Val
XM_011510971.2:c.4496C>T	XP_011509273.1:p.Ala1499Val
XM_011510972.2:c.4592C>T	XP_011509274.2:p.Ala1531Val
XM_011510973.2:c.4316C>T	XP_011509275.1:p.Ala1439Val
XM_011510974.2:c.4265C>T	XP_011509276.1:p.Ala1422Val
XM_017003818.1:c.4892C>T	XP_016859307.1:p.Ala1631Val
XM_024452794.1:c.4691C>T	XP_024308562.1:p.Ala1564Val
XM_024452795.1:c.4691C>T	XP_024308563.1:p.Ala1564Val
NM_001371271.1:c.4691C>T	NP_001358200.1:p.Ala1564Val
NM_001374353.1:c.4640C>T MANE Select	NP_001361282.1:p.Ala1547Val
NM_001374354.1:c.4265C>T	NP_001361283.1:p.Ala1422Val
NM_005270.5:c.4691C>T	NP_005261.2:p.Ala1564Val