CMTR2 cap methyltransferase 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| not provided | 5 | 0 |
| Uncertain significance | 0 | 60 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
 |
0 |
 |
66 |
 |
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
Locus Zoom
Variants
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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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| 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 | AFT |
| SYNONYM | FTSJD1 |
| SYNONYM | HMTr2 |
| SYNONYM | MTr2 |
| MIM | 616190 OMIM |
| HGNC | HGNC:25635 HGNC |
| Ensembl | ENSG00000180917 Ensembl |
| AllianceGenome | HGNC:25635 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000338099.9 | hg38 | chr16 | 71,281,389 | 71,289,609 | 8,221 |
| ENST00000434935.7 | hg38 | chr16 | 71,281,392 | 71,289,402 | 8,011 |
| ENST00000338099.9 | hg19 | chr16 | 71,315,292 | 71,323,512 | 8,221 |
| ENST00000434935.7 | hg19 | chr16 | 71,315,295 | 71,323,305 | 8,011 |
| Key | Value |
|---|---|
| strand | - |
| start | 71,316,202 |
| Gene Symbol | CMTR2 |
| Entrez GeneId | 55,783 |
| Chr Band | 16q22.2 |
| end | 71,323,508 |
| chr | chr16 |
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