Canonical Allele Identifier: CA2439980771
Gene: TBX22 HGNC NCBI

Linked Data

dbSNP Id: rs1923998976

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80026818del , CM000685.2:g.80026818del GRCh38
NC_000023.10:g.79282317del , CM000685.1:g.79282317del GRCh37
NC_000023.9:g.79168973del NCBI36
NG_008998.1:g.17063del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.748del MANE Select ENSP00000362393.3:p.Ser250ProfsTer10
ENST00000373294.8:c.748del ENSP00000362390.5:p.Ser250ProfsTer10
ENST00000373296.7:c.748del ENSP00000362393.3:p.Ser250ProfsTer10
ENST00000626498.2:c.*360del ENSP00000487527.1:n.*360del
ENST00000626877.1:n.627del
NM_001109878.1:c.748del NP_001103348.1:p.Ser250ProfsTer10
NM_001109879.1:c.388del NP_001103349.1:p.Ser130ProfsTer10
NM_001303475.1:c.388del NP_001290404.1:p.Ser130ProfsTer10
NM_016954.2:c.748del NP_058650.1:p.Ser250ProfsTer10
XM_005262136.2:c.751del XP_005262193.1:p.Ser251ProfsTer10
XM_006724657.2:c.751del XP_006724720.1:p.Ser251ProfsTer10
XM_011530972.1:c.388del XP_011529274.1:p.Ser130ProfsTer10
NM_001109878.2:c.748del MANE Select NP_001103348.1:p.Ser250ProfsTer10
NM_001109879.2:c.388del NP_001103349.1:p.Ser130ProfsTer10