Canonical Allele Identifier: CA658280263

Gene: TBX22

Linked Data

• dbSNP Id: rs1174623639
• gnomAD v3: X-80027079-T-C
• gnomAD v4: X-80027079-T-C
• COSMIC: COSN7535490
• MyVariant Identifiers: chrX:g.79282578T>C (hg19) ; chrX:g.80027079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80027079T>C , CM000685.2:g.80027079T>C	GRCh38
NC_000023.10:g.79282578T>C , CM000685.1:g.79282578T>C	GRCh37
NC_000023.9:g.79169234T>C	NCBI36
NG_008998.1:g.17324T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.799-177T>C MANE Select	ENSP00000362393.3:n.799-177T>C
ENST00000373294.8:c.799-177T>C	ENSP00000362390.5:n.799-177T>C
ENST00000373296.7:c.799-177T>C	ENSP00000362393.3:n.799-177T>C
ENST00000626498.2:c.*411-177T>C	ENSP00000487527.1:n.*411-177T>C
ENST00000626877.1:n.678-177T>C
NM_001109878.1:c.799-177T>C	NP_001103348.1:n.799-177T>C
NM_001109879.1:c.439-177T>C	NP_001103349.1:n.439-177T>C
NM_001303475.1:c.439-177T>C	NP_001290404.1:n.439-177T>C
NM_016954.2:c.799-177T>C	NP_058650.1:n.799-177T>C
XM_005262136.2:c.802-177T>C	XP_005262193.1:n.802-177T>C
XM_006724657.2:c.802-177T>C	XP_006724720.1:n.802-177T>C
XM_011530972.1:c.439-177T>C	XP_011529274.1:n.439-177T>C
NM_001109878.2:c.799-177T>C MANE Select	NP_001103348.1:n.799-177T>C
NM_001109879.2:c.439-177T>C	NP_001103349.1:n.439-177T>C