Canonical Allele Identifier: CA10461279
Gene: TBX22 HGNC NCBI

Linked Data

dbSNP Id: rs757598908
gnomAD v2: X-79282221-C-A
gnomAD v3: X-80026722-C-A
gnomAD v4: X-80026722-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80026722C>A , CM000685.2:g.80026722C>A GRCh38
NC_000023.10:g.79282221C>A , CM000685.1:g.79282221C>A GRCh37
NC_000023.9:g.79168877C>A NCBI36
NG_008998.1:g.16967C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.652C>A MANE Select ENSP00000362393.3:p.His218Asn
ENST00000373294.8:c.652C>A ENSP00000362390.5:p.His218Asn
ENST00000373296.7:c.652C>A ENSP00000362393.3:p.His218Asn
ENST00000626498.2:c.*264C>A ENSP00000487527.1:n.*264C>A
ENST00000626877.1:n.531C>A
NM_001109878.1:c.652C>A NP_001103348.1:p.His218Asn
NM_001109879.1:c.292C>A NP_001103349.1:p.His98Asn
NM_001303475.1:c.292C>A NP_001290404.1:p.His98Asn
NM_016954.2:c.652C>A NP_058650.1:p.His218Asn
XM_005262136.2:c.655C>A XP_005262193.1:p.His219Asn
XM_006724657.2:c.655C>A XP_006724720.1:p.His219Asn
XM_011530972.1:c.292C>A XP_011529274.1:p.His98Asn
NM_001109878.2:c.652C>A MANE Select NP_001103348.1:p.His218Asn
NM_001109879.2:c.292C>A NP_001103349.1:p.His98Asn