Canonical Allele Identifier: CA121423
Gene: TBX22 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11329
ClinVar RCV Id: RCV000012082
dbSNP Id: rs104894943
COSMIC: COSM196873

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80026849C>T , CM000685.2:g.80026849C>T GRCh38
NC_000023.10:g.79282348C>T , CM000685.1:g.79282348C>T GRCh37
NC_000023.9:g.79169004C>T NCBI36
NG_008998.1:g.17094C>T

Transcript Alleles

HGVS Amino-acid change
NM_001109878.1:c.779C>T VV NP_001103348.1:p.Thr260Met
NM_001109879.1:c.419C>T VV NP_001103349.1:p.Thr140Met
NM_001303475.1:c.419C>T VV NP_001290404.1:p.Thr140Met
NM_016954.2:c.779C>T VV NP_058650.1:p.Thr260Met
XM_005262136.2:c.782C>T XP_005262193.1:p.Thr261Met
XM_006724657.2:c.782C>T XP_006724720.1:p.Thr261Met
XM_011530972.1:c.419C>T XP_011529274.1:p.Thr140Met
NM_001109878.2:c.779C>T VV MANE Preferred NP_001103348.1:p.Thr260Met
ENST00000373294.8:c.779C>T ENSP00000362390.5:p.Thr260Met
ENST00000373296.7:c.779C>T ENSP00000362393.3:p.Thr260Met
ENST00000626498.2:c.*391C>T ENSP00000487527.1:p.=
ENST00000626877.1:n.658C>T