CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
Information
- Symbol
- CNNM2
- Type
- protein-coding
- Description
- cyclin and CBS domain divalent metal cation transport mediator 2
- Entrez Gene ID
- 54805
- Genome
- hg19
- Position
- chr10:104,678,051-104,849,979
- Genome
- hg38
- Position
- chr10:102,918,294-103,090,222
- MIM
- 607803 OMIM
- HGNC
- HGNC:103 HGNC
- Ensembl
- ENSG00000148842 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 36 |
| Likely pathogenic | 0 | 16 |
| Benign | 0 | 108 |
| Likely benign | 0 | 232 |
| Conflicting classifications of pathogenicity | 0 | 14 |
| Uncertain significance | 0 | 302 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
108 |
 |
530 |
 |
32 |
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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| 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 | ACDP2 |
| SYNONYM | HOMG6 |
| SYNONYM | HOMGSMR |
| MIM | 607803 OMIM |
| HGNC | HGNC:103 HGNC |
| Ensembl | ENSG00000148842 Ensembl |
| AllianceGenome | HGNC:103 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000369878.9 | hg38 | chr10 | 102,918,294 | 103,090,222 | 171,929 |
| ENST00000369875.3 | hg38 | chr10 | 102,918,317 | 102,927,618 | 9,302 |
| ENST00000433628.2 | hg38 | chr10 | 102,918,357 | 103,078,351 | 159,995 |
| ENST00000369878.9 | hg19 | chr10 | 104,678,051 | 104,849,979 | 171,929 |
| ENST00000369875.3 | hg19 | chr10 | 104,678,074 | 104,687,375 | 9,302 |
| ENST00000433628.2 | hg19 | chr10 | 104,678,114 | 104,838,108 | 159,995 |
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