EML2 EMAP like 2

Information
Symbol
EML2
Type
protein-coding
Description
EMAP like 2
Entrez Gene ID
24139
Genome
hg19
Position
chr19:46,112,658-46,148,860
Genome
hg38
Position
chr19:45,609,400-45,645,602
MIM
617494 OMIM
HGNC
HGNC:18035 HGNC
Ensembl
ENSG00000125746 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 104
Ranking
ClinVar
0
0
0
110
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 ELP70
SYNONYM EMAP-2
SYNONYM EMAP2
MIM 617494 OMIM
HGNC HGNC:18035 HGNC
Ensembl ENSG00000125746 Ensembl
AllianceGenome HGNC:18035
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000587152.6 hg38 chr19 45,609,400 45,645,602 36,203
ENST00000589876.5 hg38 chr19 45,606,994 45,639,403 32,410
ENST00000245925.8 hg38 chr19 45,609,400 45,639,397 29,998
ENST00000536630.5 hg38 chr19 45,609,402 45,643,727 34,326
ENST00000245925.8 hg19 chr19 46,112,658 46,142,655 29,998
ENST00000587152.6 hg19 chr19 46,112,658 46,148,860 36,203
ENST00000536630.5 hg19 chr19 46,112,660 46,146,985 34,326
ENST00000589876.5 hg19 chr19 46,110,252 46,142,661 32,410
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