Canonical Allele Identifier: CA143734

Gene: TBX22

Linked Data

• ClinVar Variation Id: 50315
• ClinVar RCV Id: RCV000043504 ; RCV000497861 ; RCV002247428 ; RCV001770065
• dbSNP Id: rs200060292
• ExAC: X:79281097 T / A
• gnomAD v2: X-79281097-T-A
• gnomAD v3: X-80025598-T-A
• gnomAD v4: X-80025598-T-A
• MyVariant Identifiers: chrX:g.79281097T>A (hg19) ; chrX:g.80025598T>A (hg38)
• PubMed: PMID:839509 ; PMID:22784330

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80025598T>A , CM000685.2:g.80025598T>A	GRCh38
NC_000023.10:g.79281097T>A , CM000685.1:g.79281097T>A	GRCh37
NC_000023.9:g.79167753T>A	NCBI36
NG_008998.1:g.15843T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.459-5T>A MANE Select	ENSP00000362393.3:n.459-5T>A
ENST00000373294.8:c.459-5T>A	ENSP00000362390.5:n.459-5T>A
ENST00000373296.7:c.459-5T>A	ENSP00000362393.3:n.459-5T>A
ENST00000626498.2:c.*71-5T>A	ENSP00000487527.1:n.*71-5T>A
ENST00000626877.1:n.338-5T>A
NM_001109878.1:c.459-5T>A	NP_001103348.1:n.459-5T>A
NM_001109879.1:c.99-5T>A	NP_001103349.1:n.99-5T>A
NM_001303475.1:c.99-5T>A	NP_001290404.1:n.99-5T>A
NM_016954.2:c.459-5T>A	NP_058650.1:n.459-5T>A
XM_005262136.2:c.462-5T>A	XP_005262193.1:n.462-5T>A
XM_006724657.2:c.462-5T>A	XP_006724720.1:n.462-5T>A
XM_011530972.1:c.99-5T>A	XP_011529274.1:n.99-5T>A
NM_001109878.2:c.459-5T>A MANE Select	NP_001103348.1:n.459-5T>A
NM_001109879.2:c.99-5T>A	NP_001103349.1:n.99-5T>A