MTERF2 mitochondrial transcription termination factor 2

Information
Symbol
MTERF2
Type
protein-coding
Description
mitochondrial transcription termination factor 2
Entrez Gene ID
80298
Genome
hg19
Position
chr12:107,371,327-107,380,904
Genome
hg38
Position
chr12:106,977,549-106,987,126
MIM
616929 OMIM
HGNC
HGNC:30779 HGNC
Ensembl
ENSG00000120832 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 4
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
48
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
[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 MTERFD3
SYNONYM mTERFL
MIM 616929 OMIM
HGNC HGNC:30779 HGNC
Ensembl ENSG00000120832 Ensembl
AllianceGenome HGNC:30779
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000552029.1 hg38 chr12 106,977,549 106,987,126 9,578
ENST00000240050.9 hg38 chr12 106,977,277 106,987,146 9,870
ENST00000392830.6 hg38 chr12 106,977,291 106,987,149 9,859
ENST00000240050.9 hg19 chr12 107,371,055 107,380,924 9,870
ENST00000392830.6 hg19 chr12 107,371,069 107,380,927 9,859
ENST00000552029.1 hg19 chr12 107,371,327 107,380,904 9,578
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