MFN2 mitofusin 2

Information
Symbol
MFN2
Type
protein-coding
Description
mitofusin 2
Entrez Gene ID
9927
Genome
hg19
Position
chr1:12,040,356-12,073,557
Genome
hg38
Position
chr1:11,980,299-12,013,500
MIM
608507 OMIM
HGNC
HGNC:16877 HGNC
Ensembl
ENSG00000116688 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 222
Likely pathogenic 0 178
Benign 16 198
Likely benign 0 660
Conflicting classifications of pathogenicity 0 134
Uncertain significance 0 1,206
Ranking
ClinVar
0
0
506
1,726
132
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 CMT2A
SYNONYM CMT2A2
SYNONYM CMT2A2A
SYNONYM CMT2A2B
SYNONYM CPRP1
SYNONYM HMSN6A
SYNONYM HSG
SYNONYM MARF
SYNONYM MSL
MIM 608507 OMIM
HGNC HGNC:16877 HGNC
Ensembl ENSG00000116688 Ensembl
AllianceGenome HGNC:16877
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000675231.1 hg38 chr1 11,980,299 12,013,500 33,202
ENST00000676293.1 hg38 chr1 11,980,444 12,013,508 33,065
ENST00000675817.1 hg38 chr1 11,980,209 12,013,500 33,292
ENST00000674910.1 hg38 chr1 11,980,281 12,013,500 33,220
ENST00000675113.1 hg38 chr1 11,980,444 12,013,500 33,057
ENST00000674658.1 hg38 chr1 11,980,276 12,013,500 33,225
ENST00000235329.10 hg38 chr1 11,980,444 12,013,508 33,065
ENST00000675053.1 hg38 chr1 11,980,191 12,013,500 33,310
ENST00000674548.1 hg38 chr1 11,980,216 12,013,500 33,285
ENST00000675919.1 hg38 chr1 11,980,444 12,013,508 33,065
ENST00000444836.5 hg38 chr1 11,980,181 12,013,514 33,334
ENST00000674817.1 hg38 chr1 11,980,189 12,013,505 33,317
ENST00000675298.1 hg38 chr1 11,980,209 12,015,211 35,003
ENST00000444836.5 hg19 chr1 12,040,238 12,073,571 33,334
ENST00000674817.1 hg19 chr1 12,040,246 12,073,562 33,317
ENST00000235329.10 hg19 chr1 12,040,501 12,073,565 33,065
ENST00000674548.1 hg19 chr1 12,040,273 12,073,557 33,285
ENST00000674658.1 hg19 chr1 12,040,333 12,073,557 33,225
ENST00000675113.1 hg19 chr1 12,040,501 12,073,557 33,057
ENST00000675053.1 hg19 chr1 12,040,248 12,073,557 33,310
ENST00000674910.1 hg19 chr1 12,040,338 12,073,557 33,220
ENST00000675817.1 hg19 chr1 12,040,266 12,073,557 33,292
ENST00000675231.1 hg19 chr1 12,040,356 12,073,557 33,202
ENST00000675298.1 hg19 chr1 12,040,266 12,075,268 35,003
ENST00000676293.1 hg19 chr1 12,040,501 12,073,565 33,065
ENST00000675919.1 hg19 chr1 12,040,501 12,073,565 33,065
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