HYAL2 hyaluronidase 2

Information
Symbol
HYAL2
Type
protein-coding
Description
hyaluronidase 2
Entrez Gene ID
8692
Genome
hg19
Position
chr3:50,355,221-50,360,213
Genome
hg38
Position
chr3:50,317,790-50,322,782
MIM
603551 OMIM
HGNC
HGNC:5321 HGNC
Ensembl
ENSG00000068001 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 6
Likely pathogenic 0 12
Benign 0 6
Likely benign 0 16
Uncertain significance 0 70
Ranking
ClinVar
0
0
4
86
18
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 :
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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 LUCA2
MIM 603551 OMIM
HGNC HGNC:5321 HGNC
Ensembl ENSG00000068001 Ensembl
AllianceGenome HGNC:5321
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000357750.9 hg38 chr3 50,317,808 50,322,745 4,938
ENST00000442581.1 hg38 chr3 50,317,812 50,322,777 4,966
ENST00000395139.7 hg38 chr3 50,317,809 50,321,713 3,905
ENST00000447092.5 hg38 chr3 50,317,790 50,322,782 4,993
ENST00000447092.5 hg19 chr3 50,355,221 50,360,213 4,993
ENST00000357750.9 hg19 chr3 50,355,239 50,360,176 4,938
ENST00000395139.7 hg19 chr3 50,355,240 50,359,144 3,905
ENST00000442581.1 hg19 chr3 50,355,243 50,360,208 4,966
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