Canonical Allele Identifier: CA413740691

Gene: TBX22

Linked Data

• MyVariant Identifiers: chrX:g.79282239G>C (hg19) ; chrX:g.80026740G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026740G>C , CM000685.2:g.80026740G>C	GRCh38
NC_000023.10:g.79282239G>C , CM000685.1:g.79282239G>C	GRCh37
NC_000023.9:g.79168895G>C	NCBI36
NG_008998.1:g.16985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.670G>C MANE Select	ENSP00000362393.3:p.Val224Leu
ENST00000373294.8:c.670G>C	ENSP00000362390.5:p.Val224Leu
ENST00000373296.7:c.670G>C	ENSP00000362393.3:p.Val224Leu
ENST00000626498.2:c.*282G>C	ENSP00000487527.1:n.*282G>C
ENST00000626877.1:n.549G>C
NM_001109878.1:c.670G>C	NP_001103348.1:p.Val224Leu
NM_001109879.1:c.310G>C	NP_001103349.1:p.Val104Leu
NM_001303475.1:c.310G>C	NP_001290404.1:p.Val104Leu
NM_016954.2:c.670G>C	NP_058650.1:p.Val224Leu
XM_005262136.2:c.673G>C	XP_005262193.1:p.Val225Leu
XM_006724657.2:c.673G>C	XP_006724720.1:p.Val225Leu
XM_011530972.1:c.310G>C	XP_011529274.1:p.Val104Leu
NM_001109878.2:c.670G>C MANE Select	NP_001103348.1:p.Val224Leu
NM_001109879.2:c.310G>C	NP_001103349.1:p.Val104Leu