Canonical Allele Identifier: CA517403007
Gene: TBX22 HGNC NCBI

Linked Data

dbSNP Id: rs2147600029
MyVariant Identifiers: chrX:g.79282211G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.80026712G>C , CM000685.2:g.80026712G>C GRCh38
NC_000023.10:g.79282211G>C , CM000685.1:g.79282211G>C GRCh37
NC_000023.9:g.79168867G>C NCBI36
NG_008998.1:g.16957G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373296.8:c.642G>C MANE Select ENSP00000362393.3:p.Leu214=
ENST00000373294.8:c.642G>C ENSP00000362390.5:p.Leu214=
ENST00000373296.7:c.642G>C ENSP00000362393.3:p.Leu214=
ENST00000626498.2:c.*254G>C ENSP00000487527.1:n.*254G>C
ENST00000626877.1:n.521G>C
NM_001109878.1:c.642G>C NP_001103348.1:p.Leu214=
NM_001109879.1:c.282G>C NP_001103349.1:p.Leu94=
NM_001303475.1:c.282G>C NP_001290404.1:p.Leu94=
NM_016954.2:c.642G>C NP_058650.1:p.Leu214=
XM_005262136.2:c.645G>C XP_005262193.1:p.Leu215=
XM_006724657.2:c.645G>C XP_006724720.1:p.Leu215=
XM_011530972.1:c.282G>C XP_011529274.1:p.Leu94=
NM_001109878.2:c.642G>C MANE Select NP_001103348.1:p.Leu214=
NM_001109879.2:c.282G>C NP_001103349.1:p.Leu94=