Canonical Allele Identifier: CA10461280
Gene: TBX22 HGNC NCBI

Linked Data

dbSNP Id: rs781385178
gnomAD v2: X-79282233-C-A
gnomAD v4: X-80026734-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80026734C>A , CM000685.2:g.80026734C>A GRCh38
NC_000023.10:g.79282233C>A , CM000685.1:g.79282233C>A GRCh37
NC_000023.9:g.79168889C>A NCBI36
NG_008998.1:g.16979C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.664C>A MANE Select ENSP00000362393.3:p.Pro222Thr
ENST00000373294.8:c.664C>A ENSP00000362390.5:p.Pro222Thr
ENST00000373296.7:c.664C>A ENSP00000362393.3:p.Pro222Thr
ENST00000626498.2:c.*276C>A ENSP00000487527.1:n.*276C>A
ENST00000626877.1:n.543C>A
NM_001109878.1:c.664C>A NP_001103348.1:p.Pro222Thr
NM_001109879.1:c.304C>A NP_001103349.1:p.Pro102Thr
NM_001303475.1:c.304C>A NP_001290404.1:p.Pro102Thr
NM_016954.2:c.664C>A NP_058650.1:p.Pro222Thr
XM_005262136.2:c.667C>A XP_005262193.1:p.Pro223Thr
XM_006724657.2:c.667C>A XP_006724720.1:p.Pro223Thr
XM_011530972.1:c.304C>A XP_011529274.1:p.Pro102Thr
NM_001109878.2:c.664C>A MANE Select NP_001103348.1:p.Pro222Thr
NM_001109879.2:c.304C>A NP_001103349.1:p.Pro102Thr