CLDN2 claudin 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Benign | 0 | 12 |
| Likely benign | 0 | 8 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 26 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
42 |
![]() |
6 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| Search word | : | |
| 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 | OAZON |
| SYNONYM | claudin-2 |
| MIM | 300520 OMIM |
| HGNC | HGNC:2041 HGNC |
| Ensembl | ENSG00000165376 Ensembl |
| AllianceGenome | HGNC:2041 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000541806.6 | hg38 | chrX | 106,900,164 | 106,929,580 | 29,417 |
| ENST00000336803.2 | hg38 | chrX | 106,920,402 | 106,930,861 | 10,460 |
| ENST00000540876.1 | hg38 | chrX | 106,918,360 | 106,930,859 | 12,500 |
| ENST00000541806.6 | hg19 | chrX | 106,143,394 | 106,172,810 | 29,417 |
| ENST00000540876.1 | hg19 | chrX | 106,161,590 | 106,174,089 | 12,500 |
| ENST00000336803.2 | hg19 | chrX | 106,163,632 | 106,174,091 | 10,460 |
Genome browser




