Canonical Allele Identifier: CA348180006

Gene: GLI2

Linked Data

• dbSNP Id: rs766495260
• gnomAD v4: 2-120990479-C-G
• MyVariant Identifiers: chr2:g.121748055C>G (hg19) ; chr2:g.120990479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990479C>G , CM000664.2:g.120990479C>G	GRCh38
NC_000002.11:g.121748055C>G , CM000664.1:g.121748055C>G	GRCh37
NC_000002.10:g.121464525C>G	NCBI36
NG_009030.1:g.198189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4514C>G MANE Select	ENSP00000354586.5:p.Ser1505Trp
ENST00000452319.6:c.4565C>G	ENSP00000390436.1:p.Ser1522Trp
ENST00000341310.10:c.*3613C>G	ENSP00000344473.6:n.*3613C>G
ENST00000361492.8:c.4565C>G	ENSP00000354586.4:p.Ser1522Trp
ENST00000438299.5:c.*2544-111C>G	ENSP00000400593.1:n.*2544-111C>G
ENST00000445186.5:c.*3664C>G	ENSP00000397488.1:n.*3664C>G
ENST00000452319.5:c.4565C>G	ENSP00000390436.1:p.Ser1522Trp
ENST00000452692.5:c.*2493-111C>G	ENSP00000403715.1:n.*2493-111C>G
NM_005270.4:c.4565C>G	NP_005261.2:p.Ser1522Trp
XM_006712422.1:c.4514C>G	XP_006712485.1:p.Ser1505Trp
XM_011510969.1:c.4547C>G	XP_011509271.1:p.Ser1516Trp
XM_011510970.1:c.4424C>G	XP_011509272.1:p.Ser1475Trp
XM_011510971.1:c.4370C>G	XP_011509273.1:p.Ser1457Trp
XM_011510972.1:c.4370C>G	XP_011509274.1:p.Ser1457Trp
XM_011510973.1:c.4190C>G	XP_011509275.1:p.Ser1397Trp
XM_011510974.1:c.4139C>G	XP_011509276.1:p.Ser1380Trp
XM_006712422.3:c.4514C>G	XP_006712485.1:p.Ser1505Trp
XM_011510969.2:c.4817C>G	XP_011509271.2:p.Ser1606Trp
XM_011510970.2:c.4424C>G	XP_011509272.1:p.Ser1475Trp
XM_011510971.2:c.4370C>G	XP_011509273.1:p.Ser1457Trp
XM_011510972.2:c.4466C>G	XP_011509274.2:p.Ser1489Trp
XM_011510973.2:c.4190C>G	XP_011509275.1:p.Ser1397Trp
XM_011510974.2:c.4139C>G	XP_011509276.1:p.Ser1380Trp
XM_017003818.1:c.4766C>G	XP_016859307.1:p.Ser1589Trp
XM_024452794.1:c.4565C>G	XP_024308562.1:p.Ser1522Trp
XM_024452795.1:c.4565C>G	XP_024308563.1:p.Ser1522Trp
NM_001371271.1:c.4565C>G	NP_001358200.1:p.Ser1522Trp
NM_001374353.1:c.4514C>G MANE Select	NP_001361282.1:p.Ser1505Trp
NM_001374354.1:c.4139C>G	NP_001361283.1:p.Ser1380Trp
NM_005270.5:c.4565C>G	NP_005261.2:p.Ser1522Trp