Canonical Allele Identifier: CA2694191788

Gene: TBX22

Linked Data

• gnomAD v4: X-80027002-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80027002C>T , CM000685.2:g.80027002C>T	GRCh38
NC_000023.10:g.79282501C>T , CM000685.1:g.79282501C>T	GRCh37
NC_000023.9:g.79169157C>T	NCBI36
NG_008998.1:g.17247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.798+134C>T MANE Select	ENSP00000362393.3:n.798+134C>T
ENST00000373294.8:c.798+134C>T	ENSP00000362390.5:n.798+134C>T
ENST00000373296.7:c.798+134C>T	ENSP00000362393.3:n.798+134C>T
ENST00000626498.2:c.*410+134C>T	ENSP00000487527.1:n.*410+134C>T
ENST00000626877.1:n.677+134C>T
NM_001109878.1:c.798+134C>T	NP_001103348.1:n.798+134C>T
NM_001109879.1:c.438+134C>T	NP_001103349.1:n.438+134C>T
NM_001303475.1:c.438+134C>T	NP_001290404.1:n.438+134C>T
NM_016954.2:c.798+134C>T	NP_058650.1:n.798+134C>T
XM_005262136.2:c.801+134C>T	XP_005262193.1:n.801+134C>T
XM_006724657.2:c.801+134C>T	XP_006724720.1:n.801+134C>T
XM_011530972.1:c.438+134C>T	XP_011529274.1:n.438+134C>T
NM_001109878.2:c.798+134C>T MANE Select	NP_001103348.1:n.798+134C>T
NM_001109879.2:c.438+134C>T	NP_001103349.1:n.438+134C>T