RAG2 recombination activating 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 6 | 118 |
Likely pathogenic | 0 | 122 |
Benign | 0 | 22 |
Likely benign | 0 | 366 |
Conflicting classifications of pathogenicity | 0 | 42 |
not provided | 1 | 0 |
Uncertain significance | 0 | 364 |
Ranking
ClinVar | |
---|---|
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0 |
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52 |
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80 |
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812 |
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22 |
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 | |||||
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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 | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | RAG-2 |
MIM | 179616 OMIM |
HGNC | HGNC:9832 HGNC |
Ensembl | ENSG00000175097 Ensembl |
AllianceGenome | HGNC:9832 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000529083.2 | hg38 | chr11 | 36,592,585 | 36,594,755 | 2,171 |
ENST00000527033.6 | hg38 | chr11 | 36,592,585 | 36,598,236 | 5,652 |
ENST00000311485.8 | hg38 | chr11 | 36,591,943 | 36,598,236 | 6,294 |
ENST00000532616.2 | hg38 | chr11 | 36,592,585 | 36,598,236 | 5,652 |
ENST00000311485.8 | hg19 | chr11 | 36,613,493 | 36,619,786 | 6,294 |
ENST00000529083.2 | hg19 | chr11 | 36,614,135 | 36,616,305 | 2,171 |
ENST00000527033.6 | hg19 | chr11 | 36,614,135 | 36,619,786 | 5,652 |
ENST00000532616.2 | hg19 | chr11 | 36,614,135 | 36,619,786 | 5,652 |
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