RUNX2 RUNX family transcription factor 2

Information
Symbol
RUNX2
Type
protein-coding
Description
RUNX family transcription factor 2
Entrez Gene ID
860
Genome
hg19
Position
chr6:45,296,106-45,518,816
Genome
hg38
Position
chr6:45,328,369-45,551,079
MIM
600211 OMIM
HGNC
HGNC:10472 HGNC
Ensembl
ENSG00000124813 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 33 199
Likely pathogenic 0 58
Benign 2 118
Likely benign 2 192
Conflicting classifications of pathogenicity 0 26
not provided 0 2
Uncertain significance 0 378
Ranking
ClinVar
0
0
78
800
43
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 AML3
SYNONYM CBF-alpha-1
SYNONYM CBFA1
SYNONYM CCD
SYNONYM CCD1
SYNONYM CLCD
SYNONYM OSF-2
SYNONYM OSF2
SYNONYM PEA2aA
SYNONYM PEBP2aA
MIM 600211 OMIM
HGNC HGNC:10472 HGNC
Ensembl ENSG00000124813 Ensembl
AllianceGenome HGNC:10472
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000371432.7 hg38 chr6 45,328,317 45,551,082 222,766
ENST00000576263.5 hg38 chr6 45,328,727 45,664,349 335,623
ENST00000647337.2 hg38 chr6 45,328,330 45,551,082 222,753
ENST00000359524.7 hg38 chr6 45,422,485 45,551,079 128,595
ENST00000371438.5 hg38 chr6 45,328,369 45,551,079 222,711
ENST00000371436.10 hg38 chr6 45,328,727 45,547,393 218,667
ENST00000625924.1 hg38 chr6 45,422,577 45,547,305 124,729
ENST00000371432.7 hg19 chr6 45,296,054 45,518,819 222,766
ENST00000647337.2 hg19 chr6 45,296,067 45,518,819 222,753
ENST00000371438.5 hg19 chr6 45,296,106 45,518,816 222,711
ENST00000371436.10 hg19 chr6 45,296,464 45,515,130 218,667
ENST00000576263.5 hg19 chr6 45,296,464 45,632,086 335,623
ENST00000359524.7 hg19 chr6 45,390,222 45,518,816 128,595
ENST00000625924.1 hg19 chr6 45,390,314 45,515,042 124,729
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