Canonical Allele Identifier: CA10461295

Gene: TBX22

Linked Data

• ClinVar Variation Id: 753761
• ClinVar RCV Id: RCV000931022 ; RCV002249577 ; RCV003960481
• dbSNP Id: rs373817537
• ExAC: X:79282349 G / A
• gnomAD v2: X-79282349-G-A
• gnomAD v3: X-80026850-G-A
• gnomAD v4: X-80026850-G-A
• MyVariant Identifiers: chrX:g.79282349G>A (hg19) ; chrX:g.80026850G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026850G>A , CM000685.2:g.80026850G>A	GRCh38
NC_000023.10:g.79282349G>A , CM000685.1:g.79282349G>A	GRCh37
NC_000023.9:g.79169005G>A	NCBI36
NG_008998.1:g.17095G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373296.8:c.780G>A MANE Select	ENSP00000362393.3:p.Thr260=
ENST00000373294.8:c.780G>A	ENSP00000362390.5:p.Thr260=
ENST00000373296.7:c.780G>A	ENSP00000362393.3:p.Thr260=
ENST00000626498.2:c.*392G>A	ENSP00000487527.1:n.*392G>A
ENST00000626877.1:n.659G>A
NM_001109878.1:c.780G>A	NP_001103348.1:p.Thr260=
NM_001109879.1:c.420G>A	NP_001103349.1:p.Thr140=
NM_001303475.1:c.420G>A	NP_001290404.1:p.Thr140=
NM_016954.2:c.780G>A	NP_058650.1:p.Thr260=
XM_005262136.2:c.783G>A	XP_005262193.1:p.Thr261=
XM_006724657.2:c.783G>A	XP_006724720.1:p.Thr261=
XM_011530972.1:c.420G>A	XP_011529274.1:p.Thr140=
NM_001109878.2:c.780G>A MANE Select	NP_001103348.1:p.Thr260=
NM_001109879.2:c.420G>A	NP_001103349.1:p.Thr140=