Canonical Allele Identifier: CA10461281

Gene: TBX22

Linked Data

• dbSNP Id: rs745901434
• ExAC: X:79282235 C / G
• gnomAD v2: X-79282235-C-G
• gnomAD v3: X-80026736-C-G
• gnomAD v4: X-80026736-C-G
• MyVariant Identifiers: chrX:g.79282235C>G (hg19) ; chrX:g.80026736C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026736C>G , CM000685.2:g.80026736C>G	GRCh38
NC_000023.10:g.79282235C>G , CM000685.1:g.79282235C>G	GRCh37
NC_000023.9:g.79168891C>G	NCBI36
NG_008998.1:g.16981C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.666C>G MANE Select	ENSP00000362393.3:p.Pro222=
ENST00000373294.8:c.666C>G	ENSP00000362390.5:p.Pro222=
ENST00000373296.7:c.666C>G	ENSP00000362393.3:p.Pro222=
ENST00000626498.2:c.*278C>G	ENSP00000487527.1:n.*278C>G
ENST00000626877.1:n.545C>G
NM_001109878.1:c.666C>G	NP_001103348.1:p.Pro222=
NM_001109879.1:c.306C>G	NP_001103349.1:p.Pro102=
NM_001303475.1:c.306C>G	NP_001290404.1:p.Pro102=
NM_016954.2:c.666C>G	NP_058650.1:p.Pro222=
XM_005262136.2:c.669C>G	XP_005262193.1:p.Pro223=
XM_006724657.2:c.669C>G	XP_006724720.1:p.Pro223=
XM_011530972.1:c.306C>G	XP_011529274.1:p.Pro102=
NM_001109878.2:c.666C>G MANE Select	NP_001103348.1:p.Pro222=
NM_001109879.2:c.306C>G	NP_001103349.1:p.Pro102=