Canonical Allele Identifier: CA413740846

Gene: TBX22

Linked Data

• MyVariant Identifiers: chrX:g.79282310A>T (hg19) ; chrX:g.80026811A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.80026811A>T , CM000685.2:g.80026811A>T	GRCh38
NC_000023.10:g.79282310A>T , CM000685.1:g.79282310A>T	GRCh37
NC_000023.9:g.79168966A>T	NCBI36
NG_008998.1:g.17056A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373296.8:c.741A>T MANE Select	ENSP00000362393.3:p.Lys247Asn
ENST00000373294.8:c.741A>T	ENSP00000362390.5:p.Lys247Asn
ENST00000373296.7:c.741A>T	ENSP00000362393.3:p.Lys247Asn
ENST00000626498.2:c.*353A>T	ENSP00000487527.1:n.*353A>T
ENST00000626877.1:n.620A>T
NM_001109878.1:c.741A>T	NP_001103348.1:p.Lys247Asn
NM_001109879.1:c.381A>T	NP_001103349.1:p.Lys127Asn
NM_001303475.1:c.381A>T	NP_001290404.1:p.Lys127Asn
NM_016954.2:c.741A>T	NP_058650.1:p.Lys247Asn
XM_005262136.2:c.744A>T	XP_005262193.1:p.Lys248Asn
XM_006724657.2:c.744A>T	XP_006724720.1:p.Lys248Asn
XM_011530972.1:c.381A>T	XP_011529274.1:p.Lys127Asn
NM_001109878.2:c.741A>T MANE Select	NP_001103348.1:p.Lys247Asn
NM_001109879.2:c.381A>T	NP_001103349.1:p.Lys127Asn