KCNC2 potassium voltage-gated channel subfamily C member 2
Information
- Symbol
- KCNC2
- Type
- protein-coding
- Description
- potassium voltage-gated channel subfamily C member 2
- Entrez Gene ID
- 3747
- Genome
- hg19
- Position
- chr12:75,433,858-75,603,619
- Genome
- hg38
- Position
- chr12:75,040,078-75,209,839
- MIM
- 176256 OMIM
- HGNC
- HGNC:6234 HGNC
- Ensembl
- ENSG00000166006 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 10 |
Likely pathogenic | 0 | 12 |
Benign | 0 | 6 |
Likely benign | 0 | 6 |
Conflicting classifications of pathogenicity | 0 | 2 |
Uncertain significance | 0 | 76 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
![]() |
4 |
![]() |
90 |
![]() |
14 |
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
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 |
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 | DEE103 |
SYNONYM | KV3.2 |
MIM | 176256 OMIM |
HGNC | HGNC:6234 HGNC |
Ensembl | ENSG00000166006 Ensembl |
AllianceGenome | HGNC:6234 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000549446.6 | hg38 | chr12 | 75,040,078 | 75,209,839 | 169,762 |
ENST00000350228.6 | hg38 | chr12 | 75,040,117 | 75,209,731 | 169,615 |
ENST00000548513.5 | hg38 | chr12 | 75,040,077 | 75,208,004 | 167,928 |
ENST00000393288.2 | hg38 | chr12 | 75,043,357 | 75,209,435 | 166,079 |
ENST00000540018.5 | hg38 | chr12 | 75,042,961 | 75,209,459 | 166,499 |
ENST00000550433.5 | hg38 | chr12 | 75,040,077 | 75,208,004 | 167,928 |
ENST00000298972.5 | hg38 | chr12 | 75,040,080 | 75,209,748 | 169,669 |
ENST00000550433.5 | hg19 | chr12 | 75,433,857 | 75,601,784 | 167,928 |
ENST00000548513.5 | hg19 | chr12 | 75,433,857 | 75,601,784 | 167,928 |
ENST00000549446.6 | hg19 | chr12 | 75,433,858 | 75,603,619 | 169,762 |
ENST00000298972.5 | hg19 | chr12 | 75,433,860 | 75,603,528 | 169,669 |
ENST00000350228.6 | hg19 | chr12 | 75,433,897 | 75,603,511 | 169,615 |
ENST00000540018.5 | hg19 | chr12 | 75,436,741 | 75,603,239 | 166,499 |
ENST00000393288.2 | hg19 | chr12 | 75,437,137 | 75,603,215 | 166,079 |
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