Canonical Allele Identifier: CA413740624

Gene: TBX22

Linked Data

• MyVariant Identifiers: chrX:g.79282209C>G (hg19) ; chrX:g.80026710C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026710C>G , CM000685.2:g.80026710C>G	GRCh38
NC_000023.10:g.79282209C>G , CM000685.1:g.79282209C>G	GRCh37
NC_000023.9:g.79168865C>G	NCBI36
NG_008998.1:g.16955C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.640C>G MANE Select	ENSP00000362393.3:p.Leu214Val
ENST00000373294.8:c.640C>G	ENSP00000362390.5:p.Leu214Val
ENST00000373296.7:c.640C>G	ENSP00000362393.3:p.Leu214Val
ENST00000626498.2:c.*252C>G	ENSP00000487527.1:n.*252C>G
ENST00000626877.1:n.519C>G
NM_001109878.1:c.640C>G	NP_001103348.1:p.Leu214Val
NM_001109879.1:c.280C>G	NP_001103349.1:p.Leu94Val
NM_001303475.1:c.280C>G	NP_001290404.1:p.Leu94Val
NM_016954.2:c.640C>G	NP_058650.1:p.Leu214Val
XM_005262136.2:c.643C>G	XP_005262193.1:p.Leu215Val
XM_006724657.2:c.643C>G	XP_006724720.1:p.Leu215Val
XM_011530972.1:c.280C>G	XP_011529274.1:p.Leu94Val
NM_001109878.2:c.640C>G MANE Select	NP_001103348.1:p.Leu214Val
NM_001109879.2:c.280C>G	NP_001103349.1:p.Leu94Val