SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
Information
- Symbol
- SMARCC2
- Type
- protein-coding
- Description
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2
- Entrez Gene ID
- 6601
- Genome
- hg19
- Position
- chr12:56,556,143-56,583,267
- Genome
- hg38
- Position
- chr12:56,162,359-56,189,483
- MIM
- 601734 OMIM
- HGNC
- HGNC:11105 HGNC
- Ensembl
- ENSG00000139613 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 30 |
| Likely pathogenic | 0 | 32 |
| Benign | 0 | 32 |
| Likely benign | 0 | 72 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| Uncertain significance | 0 | 260 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
38 |
 |
372 |
 |
8 |
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
|
| 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 | BAF170 |
| SYNONYM | CRACC2 |
| SYNONYM | CSS8 |
| SYNONYM | Rsc8 |
| MIM | 601734 OMIM |
| HGNC | HGNC:11105 HGNC |
| Ensembl | ENSG00000139613 Ensembl |
| AllianceGenome | HGNC:11105 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000267064.8 | hg38 | chr12 | 56,163,345 | 56,189,548 | 26,204 |
| ENST00000394023.7 | hg38 | chr12 | 56,162,983 | 56,189,567 | 26,585 |
| ENST00000550164.6 | hg38 | chr12 | 56,162,359 | 56,189,483 | 27,125 |
| ENST00000347471.8 | hg38 | chr12 | 56,163,330 | 56,189,548 | 26,219 |
| ENST00000550164.6 | hg19 | chr12 | 56,556,143 | 56,583,267 | 27,125 |
| ENST00000394023.7 | hg19 | chr12 | 56,556,767 | 56,583,351 | 26,585 |
| ENST00000347471.8 | hg19 | chr12 | 56,557,114 | 56,583,332 | 26,219 |
| ENST00000267064.8 | hg19 | chr12 | 56,557,129 | 56,583,332 | 26,204 |
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