EHMT2 euchromatic histone lysine methyltransferase 2

Information
Symbol
EHMT2
Type
protein-coding
Description
euchromatic histone lysine methyltransferase 2
Entrez Gene ID
10919
Genome
hg19
Position
chr6:31,847,536-31,864,979
Genome
hg38
Position
chr6:31,879,759-31,897,202
MIM
604599 OMIM
HGNC
HGNC:14129 HGNC
Ensembl
ENSG00000204371 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 14
Likely benign 0 10
not provided 10 0
Uncertain significance 0 80
Ranking
ClinVar
0
0
0
106
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 BAT8
SYNONYM C6orf30
SYNONYM G9A
SYNONYM GAT8
SYNONYM KMT1C
SYNONYM NG36
MIM 604599 OMIM
HGNC HGNC:14129 HGNC
Ensembl ENSG00000204371 Ensembl
AllianceGenome HGNC:14129
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000375537.9 hg38 chr6 31,879,759 31,897,698 17,940
ENST00000395728.7 hg38 chr6 31,879,759 31,897,202 17,444
ENST00000375528.8 hg38 chr6 31,879,759 31,897,222 17,464
ENST00000375530.8 hg38 chr6 31,879,759 31,897,677 17,919
ENST00000395728.7 hg19 chr6 31,847,536 31,864,979 17,444
ENST00000375528.8 hg19 chr6 31,847,536 31,864,999 17,464
ENST00000375530.8 hg19 chr6 31,847,536 31,865,454 17,919
ENST00000375537.9 hg19 chr6 31,847,536 31,865,475 17,940
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