MEF2B myocyte enhancer factor 2B

Information
Symbol
MEF2B
Type
protein-coding
Description
myocyte enhancer factor 2B
Entrez Gene ID
100271849
Genome
hg19
Position
chr19:19,256,376-19,281,072
Genome
hg38
Position
chr19:19,145,567-19,170,263
MIM
600661 OMIM
HGNC
HGNC:6995 HGNC
Ensembl
ENSG00000213999 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 20 0
Uncertain significance 0 68
Ranking
ClinVar
0
0
2
68
0
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 RSRFR2
MIM 600661 OMIM
HGNC HGNC:6995 HGNC
Ensembl ENSG00000213999 Ensembl
AllianceGenome HGNC:6995
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000444486.7 hg38 chr19 19,145,567 19,192,131 46,565
ENST00000409224.5 hg38 chr19 19,145,568 19,170,263 24,696
ENST00000410050.5 hg38 chr19 19,145,569 19,170,248 24,680
ENST00000424583.7 hg38 chr19 19,145,567 19,170,263 24,697
ENST00000409447.2 hg38 chr19 19,145,593 19,170,289 24,697
ENST00000424583.7 hg19 chr19 19,256,376 19,281,072 24,697
ENST00000444486.7 hg19 chr19 19,256,376 19,302,940 46,565
ENST00000409224.5 hg19 chr19 19,256,377 19,281,072 24,696
ENST00000410050.5 hg19 chr19 19,256,378 19,281,057 24,680
ENST00000409447.2 hg19 chr19 19,256,402 19,281,098 24,697
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