VAMP2 vesicle associated membrane protein 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 10 |
Likely pathogenic | 0 | 8 |
Benign | 0 | 2 |
Likely benign | 0 | 10 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 24 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
6 |
![]() |
42 |
![]() |
6 |
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 |
Type | ID |
---|---|
SYNONYM | NEDHAHM |
SYNONYM | SYB2 |
SYNONYM | VAMP-2 |
MIM | 185881 OMIM |
HGNC | HGNC:12643 HGNC |
Ensembl | ENSG00000220205 Ensembl |
AllianceGenome | HGNC:12643 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000488857.5 | hg38 | chr17 | 8,160,819 | 8,162,932 | 2,114 |
ENST00000404970.3 | hg38 | chr17 | 8,160,406 | 8,163,546 | 3,141 |
ENST00000481878.1 | hg38 | chr17 | 8,161,319 | 8,162,948 | 1,630 |
ENST00000316509.11 | hg38 | chr17 | 8,159,149 | 8,162,948 | 3,800 |
ENST00000316509.11 | hg19 | chr17 | 8,062,467 | 8,066,266 | 3,800 |
ENST00000404970.3 | hg19 | chr17 | 8,063,724 | 8,066,864 | 3,141 |
ENST00000488857.5 | hg19 | chr17 | 8,064,137 | 8,066,250 | 2,114 |
ENST00000481878.1 | hg19 | chr17 | 8,064,637 | 8,066,266 | 1,630 |
Genome browser