Canonical Allele Identifier: CA10654384

Gene: TBX22

Linked Data

• ClinVar Variation Id: 368674
• ClinVar RCV Id: RCV000319728
• dbSNP Id: rs757571902
• gnomAD v2: X-79286707-C-A
• gnomAD v3: X-80031208-C-A
• gnomAD v4: X-80031208-C-A
• MyVariant Identifiers: chrX:g.79286707C>A (hg19) ; chrX:g.80031208C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80031208C>A , CM000685.2:g.80031208C>A	GRCh38
NC_000023.10:g.79286707C>A , CM000685.1:g.79286707C>A	GRCh37
NC_000023.9:g.79173363C>A	NCBI36
NG_008998.1:g.21453C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.*97C>A MANE Select	ENSP00000362393.3:n.*97C>A
ENST00000373294.8:c.*97C>A	ENSP00000362390.5:n.*97C>A
ENST00000373296.7:c.*97C>A	ENSP00000362393.3:n.*97C>A
ENST00000626498.2:c.*1272C>A	ENSP00000487527.1:n.*1272C>A
ENST00000626877.1:n.1539C>A
NM_001109878.1:c.*97C>A	NP_001103348.1:n.*97C>A
NM_001109879.1:c.*97C>A	NP_001103349.1:n.*97C>A
NM_001303475.1:c.*97C>A	NP_001290404.1:n.*97C>A
NM_016954.2:c.*97C>A	NP_058650.1:n.*97C>A
XM_005262136.2:c.*97C>A	XP_005262193.1:n.*97C>A
XM_006724657.2:c.953-1756C>A	XP_006724720.1:n.953-1756C>A
XM_011530972.1:c.*97C>A	XP_011529274.1:n.*97C>A
NM_001109878.2:c.*97C>A MANE Select	NP_001103348.1:n.*97C>A
NM_001109879.2:c.*97C>A	NP_001103349.1:n.*97C>A