RAC2 Rac family small GTPase 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 10 |
| Likely pathogenic | 0 | 4 |
| Benign | 2 | 26 |
| Likely benign | 0 | 174 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| Uncertain significance | 0 | 108 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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32 |
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274 |
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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
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 | |||||||||||
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MGeND data only
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| 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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| 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 | EN-7 |
| SYNONYM | Gx |
| SYNONYM | HSPC022 |
| SYNONYM | IMD73A |
| SYNONYM | IMD73B |
| SYNONYM | IMD73C |
| SYNONYM | p21-Rac2 |
| MIM | 602049 OMIM |
| HGNC | HGNC:9802 HGNC |
| Ensembl | ENSG00000128340 Ensembl |
| AllianceGenome | HGNC:9802 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000406508.5 | hg38 | chr22 | 37,225,852 | 37,244,448 | 18,597 |
| ENST00000249071.11 | hg38 | chr22 | 37,225,270 | 37,244,269 | 19,000 |
| ENST00000401529.3 | hg38 | chr22 | 37,240,805 | 37,244,248 | 3,444 |
| ENST00000405484.5 | hg38 | chr22 | 37,226,673 | 37,244,432 | 17,760 |
| ENST00000249071.11 | hg19 | chr22 | 37,621,310 | 37,640,309 | 19,000 |
| ENST00000406508.5 | hg19 | chr22 | 37,621,892 | 37,640,488 | 18,597 |
| ENST00000405484.5 | hg19 | chr22 | 37,622,713 | 37,640,472 | 17,760 |
| ENST00000401529.3 | hg19 | chr22 | 37,636,845 | 37,640,288 | 3,444 |
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