EHD2 EH domain containing 2

Information
Symbol
EHD2
Type
protein-coding
Description
EH domain containing 2
Entrez Gene ID
30846
Genome
hg19
Position
chr19:48,216,679-48,246,391
Genome
hg38
Position
chr19:47,713,422-47,743,134
MIM
605890 OMIM
HGNC
HGNC:3243 HGNC
Ensembl
ENSG00000024422 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 52
Ranking
ClinVar
0
0
0
52
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 PAST2
MIM 605890 OMIM
HGNC HGNC:3243 HGNC
Ensembl ENSG00000024422 Ensembl
AllianceGenome HGNC:3243
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263277.8 hg38 chr19 47,713,422 47,743,134 29,713
ENST00000538399.1 hg38 chr19 47,713,422 47,741,853 28,432
ENST00000538399.1 hg19 chr19 48,216,679 48,245,110 28,432
ENST00000263277.8 hg19 chr19 48,216,679 48,246,391 29,713
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