Canonical Allele Identifier: CA413740690

Gene: TBX22

Linked Data

• dbSNP Id: rs1445663868
• gnomAD v2: X-79282239-G-A
• gnomAD v4: X-80026740-G-A
• MyVariant Identifiers: chrX:g.79282239G>A (hg19) ; chrX:g.80026740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026740G>A , CM000685.2:g.80026740G>A	GRCh38
NC_000023.10:g.79282239G>A , CM000685.1:g.79282239G>A	GRCh37
NC_000023.9:g.79168895G>A	NCBI36
NG_008998.1:g.16985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.670G>A MANE Select	ENSP00000362393.3:p.Val224Met
ENST00000373294.8:c.670G>A	ENSP00000362390.5:p.Val224Met
ENST00000373296.7:c.670G>A	ENSP00000362393.3:p.Val224Met
ENST00000626498.2:c.*282G>A	ENSP00000487527.1:n.*282G>A
ENST00000626877.1:n.549G>A
NM_001109878.1:c.670G>A	NP_001103348.1:p.Val224Met
NM_001109879.1:c.310G>A	NP_001103349.1:p.Val104Met
NM_001303475.1:c.310G>A	NP_001290404.1:p.Val104Met
NM_016954.2:c.670G>A	NP_058650.1:p.Val224Met
XM_005262136.2:c.673G>A	XP_005262193.1:p.Val225Met
XM_006724657.2:c.673G>A	XP_006724720.1:p.Val225Met
XM_011530972.1:c.310G>A	XP_011529274.1:p.Val104Met
NM_001109878.2:c.670G>A MANE Select	NP_001103348.1:p.Val224Met
NM_001109879.2:c.310G>A	NP_001103349.1:p.Val104Met