Canonical Allele Identifier: CA413740831

Gene: TBX22

Linked Data

• dbSNP Id: rs1238545711
• gnomAD v2: X-79282303-G-A
• gnomAD v4: X-80026804-G-A
• MyVariant Identifiers: chrX:g.79282303G>A (hg19) ; chrX:g.80026804G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026804G>A , CM000685.2:g.80026804G>A	GRCh38
NC_000023.10:g.79282303G>A , CM000685.1:g.79282303G>A	GRCh37
NC_000023.9:g.79168959G>A	NCBI36
NG_008998.1:g.17049G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.734G>A MANE Select	ENSP00000362393.3:p.Gly245Asp
ENST00000373294.8:c.734G>A	ENSP00000362390.5:p.Gly245Asp
ENST00000373296.7:c.734G>A	ENSP00000362393.3:p.Gly245Asp
ENST00000626498.2:c.*346G>A	ENSP00000487527.1:n.*346G>A
ENST00000626877.1:n.613G>A
NM_001109878.1:c.734G>A	NP_001103348.1:p.Gly245Asp
NM_001109879.1:c.374G>A	NP_001103349.1:p.Gly125Asp
NM_001303475.1:c.374G>A	NP_001290404.1:p.Gly125Asp
NM_016954.2:c.734G>A	NP_058650.1:p.Gly245Asp
XM_005262136.2:c.737G>A	XP_005262193.1:p.Gly246Asp
XM_006724657.2:c.737G>A	XP_006724720.1:p.Gly246Asp
XM_011530972.1:c.374G>A	XP_011529274.1:p.Gly125Asp
NM_001109878.2:c.734G>A MANE Select	NP_001103348.1:p.Gly245Asp
NM_001109879.2:c.374G>A	NP_001103349.1:p.Gly125Asp