SV2A synaptic vesicle glycoprotein 2A

Information
Symbol
SV2A
Type
protein-coding
Description
synaptic vesicle glycoprotein 2A
Entrez Gene ID
9900
Genome
hg19
Position
chr1:149,874,870-149,889,396
Genome
hg38
Position
chr1:149,903,318-149,917,844
MIM
185860 OMIM
HGNC
HGNC:20566 HGNC
Ensembl
ENSG00000159164 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 24
Uncertain significance 0 72
Ranking
ClinVar
0
0
0
108
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 :
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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 DEE113
SYNONYM SLC22B1
SYNONYM SV2
MIM 185860 OMIM
HGNC HGNC:20566 HGNC
Ensembl ENSG00000159164 Ensembl
AllianceGenome HGNC:20566
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369145.1 hg38 chr1 149,905,472 149,917,841 12,370
ENST00000369146.8 hg38 chr1 149,903,318 149,917,844 14,527
ENST00000369146.8 hg19 chr1 149,874,870 149,889,396 14,527
ENST00000369145.1 hg19 chr1 149,877,024 149,889,393 12,370
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