Canonical Allele Identifier: CA10461289

Gene: TBX22

Linked Data

• dbSNP Id: rs776290173
• ExAC: X:79282298 T / C
• gnomAD v2: X-79282298-T-C
• gnomAD v4: X-80026799-T-C
• MyVariant Identifiers: chrX:g.79282298T>C (hg19) ; chrX:g.80026799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026799T>C , CM000685.2:g.80026799T>C	GRCh38
NC_000023.10:g.79282298T>C , CM000685.1:g.79282298T>C	GRCh37
NC_000023.9:g.79168954T>C	NCBI36
NG_008998.1:g.17044T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.729T>C MANE Select	ENSP00000362393.3:p.Thr243=
ENST00000373294.8:c.729T>C	ENSP00000362390.5:p.Thr243=
ENST00000373296.7:c.729T>C	ENSP00000362393.3:p.Thr243=
ENST00000626498.2:c.*341T>C	ENSP00000487527.1:n.*341T>C
ENST00000626877.1:n.608T>C
NM_001109878.1:c.729T>C	NP_001103348.1:p.Thr243=
NM_001109879.1:c.369T>C	NP_001103349.1:p.Thr123=
NM_001303475.1:c.369T>C	NP_001290404.1:p.Thr123=
NM_016954.2:c.729T>C	NP_058650.1:p.Thr243=
XM_005262136.2:c.732T>C	XP_005262193.1:p.Thr244=
XM_006724657.2:c.732T>C	XP_006724720.1:p.Thr244=
XM_011530972.1:c.369T>C	XP_011529274.1:p.Thr123=
NM_001109878.2:c.729T>C MANE Select	NP_001103348.1:p.Thr243=
NM_001109879.2:c.369T>C	NP_001103349.1:p.Thr123=