Canonical Allele Identifier: CA535600731

Gene: GLI2

Linked Data

• dbSNP Id: rs1233923100
• gnomAD v2: 2-121748220-A-AG
• gnomAD v4: 2-120990644-A-AG
• MyVariant Identifiers: chr2:g.121748220_121748221insG (hg19) ; chr2:g.120990644_120990645insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120990646dup , CM000664.2:g.120990646dup	GRCh38
NC_000002.11:g.121748222dup , CM000664.1:g.121748222dup	GRCh37
NC_000002.10:g.121464692dup	NCBI36
NG_009030.1:g.198356dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361492.9:c.4681dup MANE Select	ENSP00000354586.5:p.Glu1561GlyfsTer?
ENST00000452319.6:c.4732dup	ENSP00000390436.1:p.Glu1578GlyfsTer?
ENST00000341310.10:c.*3780dup	ENSP00000344473.6:n.*3780dup
ENST00000361492.8:c.4732dup	ENSP00000354586.4:p.Glu1578GlyfsTer?
ENST00000438299.5:c.*2600dup	ENSP00000400593.1:n.*2600dup
ENST00000445186.5:c.*3831dup	ENSP00000397488.1:n.*3831dup
ENST00000452319.5:c.4732dup	ENSP00000390436.1:p.Glu1578GlyfsTer?
ENST00000452692.5:c.*2549dup	ENSP00000403715.1:n.*2549dup
NM_005270.4:c.4732dup	NP_005261.2:p.Glu1578GlyfsTer?
XM_006712422.1:c.4681dup	XP_006712485.1:p.Glu1561GlyfsTer?
XM_011510969.1:c.4714dup	XP_011509271.1:p.Glu1572GlyfsTer?
XM_011510970.1:c.4591dup	XP_011509272.1:p.Glu1531GlyfsTer?
XM_011510971.1:c.4537dup	XP_011509273.1:p.Glu1513GlyfsTer?
XM_011510972.1:c.4537dup	XP_011509274.1:p.Glu1513GlyfsTer?
XM_011510973.1:c.4357dup	XP_011509275.1:p.Glu1453GlyfsTer?
XM_011510974.1:c.4306dup	XP_011509276.1:p.Glu1436GlyfsTer?
XM_006712422.3:c.4681dup	XP_006712485.1:p.Glu1561GlyfsTer?
XM_011510969.2:c.4984dup	XP_011509271.2:p.Glu1662GlyfsTer?
XM_011510970.2:c.4591dup	XP_011509272.1:p.Glu1531GlyfsTer?
XM_011510971.2:c.4537dup	XP_011509273.1:p.Glu1513GlyfsTer?
XM_011510972.2:c.4633dup	XP_011509274.2:p.Glu1545GlyfsTer?
XM_011510973.2:c.4357dup	XP_011509275.1:p.Glu1453GlyfsTer?
XM_011510974.2:c.4306dup	XP_011509276.1:p.Glu1436GlyfsTer?
XM_017003818.1:c.4933dup	XP_016859307.1:p.Glu1645GlyfsTer?
XM_024452794.1:c.4732dup	XP_024308562.1:p.Glu1578GlyfsTer?
XM_024452795.1:c.4732dup	XP_024308563.1:p.Glu1578GlyfsTer?
NM_001371271.1:c.4732dup	NP_001358200.1:p.Glu1578GlyfsTer?
NM_001374353.1:c.4681dup MANE Select	NP_001361282.1:p.Glu1561GlyfsTer?
NM_001374354.1:c.4306dup	NP_001361283.1:p.Glu1436GlyfsTer?
NM_005270.5:c.4732dup	NP_005261.2:p.Glu1578GlyfsTer?