TBX2 T-box transcription factor 2

Information
Symbol
TBX2
Type
protein-coding
Description
T-box transcription factor 2
Entrez Gene ID
6909
Genome
hg19
Position
chr17:59,477,204-59,486,827
Genome
hg38
Position
chr17:61,399,843-61,409,466
MIM
600747 OMIM
HGNC
HGNC:11597 HGNC
Ensembl
ENSG00000121068 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 8
Benign 0 34
Likely benign 0 50
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 90
Ranking
ClinVar
0
0
28
140
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM VETD
MIM 600747 OMIM
HGNC HGNC:11597 HGNC
Ensembl ENSG00000121068 Ensembl
AllianceGenome HGNC:11597
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000240328.4 hg38 chr17 61,399,843 61,409,466 9,624
ENST00000240328.4 hg19 chr17 59,477,204 59,486,827 9,624
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