Canonical Allele Identifier: CA413740666

Gene: TBX22

Linked Data

• dbSNP Id: rs1449258747
• gnomAD v2: X-79282227-T-G
• gnomAD v4: X-80026728-T-G
• MyVariant Identifiers: chrX:g.79282227T>G (hg19) ; chrX:g.80026728T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026728T>G , CM000685.2:g.80026728T>G	GRCh38
NC_000023.10:g.79282227T>G , CM000685.1:g.79282227T>G	GRCh37
NC_000023.9:g.79168883T>G	NCBI36
NG_008998.1:g.16973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.658T>G MANE Select	ENSP00000362393.3:p.Tyr220Asp
ENST00000373294.8:c.658T>G	ENSP00000362390.5:p.Tyr220Asp
ENST00000373296.7:c.658T>G	ENSP00000362393.3:p.Tyr220Asp
ENST00000626498.2:c.*270T>G	ENSP00000487527.1:n.*270T>G
ENST00000626877.1:n.537T>G
NM_001109878.1:c.658T>G	NP_001103348.1:p.Tyr220Asp
NM_001109879.1:c.298T>G	NP_001103349.1:p.Tyr100Asp
NM_001303475.1:c.298T>G	NP_001290404.1:p.Tyr100Asp
NM_016954.2:c.658T>G	NP_058650.1:p.Tyr220Asp
XM_005262136.2:c.661T>G	XP_005262193.1:p.Tyr221Asp
XM_006724657.2:c.661T>G	XP_006724720.1:p.Tyr221Asp
XM_011530972.1:c.298T>G	XP_011529274.1:p.Tyr100Asp
NM_001109878.2:c.658T>G MANE Select	NP_001103348.1:p.Tyr220Asp
NM_001109879.2:c.298T>G	NP_001103349.1:p.Tyr100Asp