STXBP2 syntaxin binding protein 2

Information
Symbol
STXBP2
Type
protein-coding
Description
syntaxin binding protein 2
Entrez Gene ID
6813
Genome
hg19
Position
chr19:7,701,999-7,712,758
Genome
hg38
Position
chr19:7,637,113-7,647,872
MIM
601717 OMIM
HGNC
HGNC:11445 HGNC
Ensembl
ENSG00000076944 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 90
Likely pathogenic 0 86
Benign 0 124
Likely benign 0 1,040
Conflicting classifications of pathogenicity 0 84
Conflicting classifications of pathogenicity; association 0 2
not provided 0 2
Uncertain significance 0 714
Ranking
ClinVar
0
0
252
1,740
10
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 FHL5
SYNONYM Hunc18b
SYNONYM MUNC18-2
SYNONYM UNC18-2
SYNONYM UNC18B
SYNONYM pp10122
SYNONYM unc-18B
MIM 601717 OMIM
HGNC HGNC:11445 HGNC
Ensembl ENSG00000076944 Ensembl
AllianceGenome HGNC:11445
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000221283.10 hg38 chr19 7,637,110 7,647,873 10,764
ENST00000441779.6 hg38 chr19 7,637,113 7,647,872 10,760
ENST00000600702.6 hg38 chr19 7,637,130 7,647,873 10,744
ENST00000602355.1 hg38 chr19 7,645,959 7,647,810 1,852
ENST00000414284.6 hg38 chr19 7,637,127 7,647,873 10,747
ENST00000221283.10 hg19 chr19 7,701,996 7,712,759 10,764
ENST00000441779.6 hg19 chr19 7,701,999 7,712,758 10,760
ENST00000414284.6 hg19 chr19 7,702,013 7,712,759 10,747
ENST00000600702.6 hg19 chr19 7,702,016 7,712,759 10,744
ENST00000602355.1 hg19 chr19 7,710,845 7,712,696 1,852
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