Canonical Allele Identifier: CA413740684

Gene: TBX22

Linked Data

• gnomAD v4: X-80026735-C-T
• COSMIC: COSM4504460
• MyVariant Identifiers: chrX:g.79282234C>T (hg19) ; chrX:g.80026735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026735C>T , CM000685.2:g.80026735C>T	GRCh38
NC_000023.10:g.79282234C>T , CM000685.1:g.79282234C>T	GRCh37
NC_000023.9:g.79168890C>T	NCBI36
NG_008998.1:g.16980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.665C>T MANE Select	ENSP00000362393.3:p.Pro222Leu
ENST00000373294.8:c.665C>T	ENSP00000362390.5:p.Pro222Leu
ENST00000373296.7:c.665C>T	ENSP00000362393.3:p.Pro222Leu
ENST00000626498.2:c.*277C>T	ENSP00000487527.1:n.*277C>T
ENST00000626877.1:n.544C>T
NM_001109878.1:c.665C>T	NP_001103348.1:p.Pro222Leu
NM_001109879.1:c.305C>T	NP_001103349.1:p.Pro102Leu
NM_001303475.1:c.305C>T	NP_001290404.1:p.Pro102Leu
NM_016954.2:c.665C>T	NP_058650.1:p.Pro222Leu
XM_005262136.2:c.668C>T	XP_005262193.1:p.Pro223Leu
XM_006724657.2:c.668C>T	XP_006724720.1:p.Pro223Leu
XM_011530972.1:c.305C>T	XP_011529274.1:p.Pro102Leu
NM_001109878.2:c.665C>T MANE Select	NP_001103348.1:p.Pro222Leu
NM_001109879.2:c.305C>T	NP_001103349.1:p.Pro102Leu