ACSF2 acyl-CoA synthetase family member 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 10 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 80 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
92 |
 |
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
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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
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| 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
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| Category | : |
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| 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 | ACSMW |
| SYNONYM | AVYV493 |
| MIM | 610465 OMIM |
| HGNC | HGNC:26101 HGNC |
| Ensembl | ENSG00000167107 Ensembl |
| AllianceGenome | HGNC:26101 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000427954.6 | hg38 | chr17 | 50,426,219 | 50,474,837 | 48,619 |
| ENST00000300441.9 | hg38 | chr17 | 50,426,218 | 50,474,837 | 48,620 |
| ENST00000504392.5 | hg38 | chr17 | 50,426,218 | 50,474,670 | 48,453 |
| ENST00000502667.5 | hg38 | chr17 | 50,426,252 | 50,474,831 | 48,580 |
| ENST00000504392.5 | hg19 | chr17 | 48,503,579 | 48,552,031 | 48,453 |
| ENST00000300441.9 | hg19 | chr17 | 48,503,579 | 48,552,198 | 48,620 |
| ENST00000427954.6 | hg19 | chr17 | 48,503,580 | 48,552,198 | 48,619 |
| ENST00000502667.5 | hg19 | chr17 | 48,503,613 | 48,552,192 | 48,580 |
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