KCNE2 potassium voltage-gated channel subfamily E regulatory subunit 2
Information
- Symbol
- KCNE2
- Type
- protein-coding
- Description
- potassium voltage-gated channel subfamily E regulatory subunit 2
- Entrez Gene ID
- 9992
- Genome
- hg19
- Position
- chr21:35,736,305-35,743,680
- Genome
- hg38
- Position
- chr21:34,364,006-34,371,381
- MIM
- 603796 OMIM
- HGNC
- HGNC:6242 HGNC
- Ensembl
- ENSG00000159197 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 2 | 26 |
Likely benign | 0 | 72 |
Conflicting classifications of pathogenicity | 0 | 46 |
Conflicting classifications of pathogenicity; risk factor | 0 | 2 |
not provided | 0 | 6 |
Uncertain significance | 0 | 132 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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78 |
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144 |
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2 |
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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Category | : |
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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 |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
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 |
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 | ATFB4 |
SYNONYM | LQT5 |
SYNONYM | LQT6 |
SYNONYM | MIRP1 |
MIM | 603796 OMIM |
HGNC | HGNC:6242 HGNC |
Ensembl | ENSG00000159197 Ensembl |
AllianceGenome | HGNC:6242 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000290310.4 | hg38 | chr21 | 34,364,006 | 34,371,381 | 7,376 |
ENST00000290310.4 | hg19 | chr21 | 35,736,305 | 35,743,680 | 7,376 |
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