Canonical Allele Identifier: CA517403008

Gene: TBX22

Linked Data

• gnomAD v4: X-80026712-G-T
• COSMIC: COSM5669866
• MyVariant Identifiers: chrX:g.79282211G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026712G>T , CM000685.2:g.80026712G>T	GRCh38
NC_000023.10:g.79282211G>T , CM000685.1:g.79282211G>T	GRCh37
NC_000023.9:g.79168867G>T	NCBI36
NG_008998.1:g.16957G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.642G>T MANE Select	ENSP00000362393.3:p.Leu214=
ENST00000373294.8:c.642G>T	ENSP00000362390.5:p.Leu214=
ENST00000373296.7:c.642G>T	ENSP00000362393.3:p.Leu214=
ENST00000626498.2:c.*254G>T	ENSP00000487527.1:n.*254G>T
ENST00000626877.1:n.521G>T
NM_001109878.1:c.642G>T	NP_001103348.1:p.Leu214=
NM_001109879.1:c.282G>T	NP_001103349.1:p.Leu94=
NM_001303475.1:c.282G>T	NP_001290404.1:p.Leu94=
NM_016954.2:c.642G>T	NP_058650.1:p.Leu214=
XM_005262136.2:c.645G>T	XP_005262193.1:p.Leu215=
XM_006724657.2:c.645G>T	XP_006724720.1:p.Leu215=
XM_011530972.1:c.282G>T	XP_011529274.1:p.Leu94=
NM_001109878.2:c.642G>T MANE Select	NP_001103348.1:p.Leu214=
NM_001109879.2:c.282G>T	NP_001103349.1:p.Leu94=