ELMO2 engulfment and cell motility 2

Information
Symbol
ELMO2
Type
protein-coding
Description
engulfment and cell motility 2
Entrez Gene ID
63916
Genome
hg19
Position
chr20:44,994,689-45,035,254
Genome
hg38
Position
chr20:46,366,050-46,406,615
MIM
606421 OMIM
HGNC
HGNC:17233 HGNC
Ensembl
ENSG00000062598 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 4
Benign 0 42
Likely benign 0 26
not provided 1 0
Uncertain significance 0 36
Ranking
ClinVar
0
0
10
98
4
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 CED-12
SYNONYM CED12
SYNONYM Ced-12A
SYNONYM ELMO-2
SYNONYM VMPI
MIM 606421 OMIM
HGNC HGNC:17233 HGNC
Ensembl ENSG00000062598 Ensembl
AllianceGenome HGNC:17233
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372176.5 hg38 chr20 46,366,050 46,406,559 40,510
ENST00000290246.11 hg38 chr20 46,366,050 46,406,615 40,566
ENST00000396391.5 hg38 chr20 46,366,055 46,406,632 40,578
ENST00000352077.6 hg38 chr20 46,367,360 46,394,482 27,123
ENST00000372176.5 hg19 chr20 44,994,689 45,035,198 40,510
ENST00000290246.11 hg19 chr20 44,994,689 45,035,254 40,566
ENST00000396391.5 hg19 chr20 44,994,694 45,035,271 40,578
ENST00000352077.6 hg19 chr20 44,995,999 45,023,121 27,123
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