EEF1AKMT2 EEF1A lysine methyltransferase 2

Information
Symbol
EEF1AKMT2
Type
protein-coding
Description
EEF1A lysine methyltransferase 2
Entrez Gene ID
399818
Genome
hg19
Position
chr10:126,446,403-126,480,456
Genome
hg38
Position
chr10:124,757,834-124,791,887
MIM
617794 OMIM
HGNC
HGNC:33787 HGNC
Ensembl
ENSG00000203791 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
34
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 :
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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 C10orf138
SYNONYM Efm4
SYNONYM METTL10
MIM 617794 OMIM
HGNC HGNC:33787 HGNC
Ensembl ENSG00000203791 Ensembl
AllianceGenome HGNC:33787
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000652548.3 hg38 chr10 124,756,253 124,791,887 35,635
ENST00000368836.7 hg38 chr10 124,757,834 124,791,887 34,054
ENST00000652548.3 hg19 chr10 126,444,822 126,480,456 35,635
ENST00000368836.7 hg19 chr10 126,446,403 126,480,456 34,054
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