Canonical Allele Identifier: CA413740876

Gene: TBX22

Linked Data

• MyVariant Identifiers: chrX:g.79282323A>C (hg19) ; chrX:g.80026824A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026824A>C , CM000685.2:g.80026824A>C	GRCh38
NC_000023.10:g.79282323A>C , CM000685.1:g.79282323A>C	GRCh37
NC_000023.9:g.79168979A>C	NCBI36
NG_008998.1:g.17069A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.754A>C MANE Select	ENSP00000362393.3:p.Lys252Gln
ENST00000373294.8:c.754A>C	ENSP00000362390.5:p.Lys252Gln
ENST00000373296.7:c.754A>C	ENSP00000362393.3:p.Lys252Gln
ENST00000626498.2:c.*366A>C	ENSP00000487527.1:n.*366A>C
ENST00000626877.1:n.633A>C
NM_001109878.1:c.754A>C	NP_001103348.1:p.Lys252Gln
NM_001109879.1:c.394A>C	NP_001103349.1:p.Lys132Gln
NM_001303475.1:c.394A>C	NP_001290404.1:p.Lys132Gln
NM_016954.2:c.754A>C	NP_058650.1:p.Lys252Gln
XM_005262136.2:c.757A>C	XP_005262193.1:p.Lys253Gln
XM_006724657.2:c.757A>C	XP_006724720.1:p.Lys253Gln
XM_011530972.1:c.394A>C	XP_011529274.1:p.Lys132Gln
NM_001109878.2:c.754A>C MANE Select	NP_001103348.1:p.Lys252Gln
NM_001109879.2:c.394A>C	NP_001103349.1:p.Lys132Gln