Canonical Allele Identifier: CA413740629

Gene: TBX22

Linked Data

• dbSNP Id: rs2147600039
• MyVariant Identifiers: chrX:g.79282212C>A (hg19) ; chrX:g.80026713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026713C>A , CM000685.2:g.80026713C>A	GRCh38
NC_000023.10:g.79282212C>A , CM000685.1:g.79282212C>A	GRCh37
NC_000023.9:g.79168868C>A	NCBI36
NG_008998.1:g.16958C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.643C>A MANE Select	ENSP00000362393.3:p.Gln215Lys
ENST00000373294.8:c.643C>A	ENSP00000362390.5:p.Gln215Lys
ENST00000373296.7:c.643C>A	ENSP00000362393.3:p.Gln215Lys
ENST00000626498.2:c.*255C>A	ENSP00000487527.1:n.*255C>A
ENST00000626877.1:n.522C>A
NM_001109878.1:c.643C>A	NP_001103348.1:p.Gln215Lys
NM_001109879.1:c.283C>A	NP_001103349.1:p.Gln95Lys
NM_001303475.1:c.283C>A	NP_001290404.1:p.Gln95Lys
NM_016954.2:c.643C>A	NP_058650.1:p.Gln215Lys
XM_005262136.2:c.646C>A	XP_005262193.1:p.Gln216Lys
XM_006724657.2:c.646C>A	XP_006724720.1:p.Gln216Lys
XM_011530972.1:c.283C>A	XP_011529274.1:p.Gln95Lys
NM_001109878.2:c.643C>A MANE Select	NP_001103348.1:p.Gln215Lys
NM_001109879.2:c.283C>A	NP_001103349.1:p.Gln95Lys