CHRNA2 cholinergic receptor nicotinic alpha 2 subunit
Information
- Symbol
- CHRNA2
- Type
- protein-coding
- Description
- cholinergic receptor nicotinic alpha 2 subunit
- Entrez Gene ID
- 1135
- Genome
- hg19
- Position
- chr8:27,317,273-27,336,778
- Genome
- hg38
- Position
- chr8:27,459,756-27,479,261
- MIM
- 118502 OMIM
- HGNC
- HGNC:1956 HGNC
- Ensembl
- ENSG00000120903 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 4 |
Likely pathogenic | 0 | 2 |
Benign | 6 | 158 |
Likely benign | 0 | 490 |
Conflicting classifications of pathogenicity | 0 | 116 |
Uncertain significance | 0 | 702 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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306 |
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1,002 |
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4 |
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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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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Search word | : | |
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 | |||
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Entry | Origin | Type | Annotation |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000407991.3 | hg38 | chr8 | 27,459,756 | 27,479,261 | 19,506 |
ENST00000520933.7 | hg38 | chr8 | 27,461,098 | 27,479,013 | 17,916 |
ENST00000240132.7 | hg38 | chr8 | 27,461,603 | 27,478,851 | 17,249 |
ENST00000407991.3 | hg19 | chr8 | 27,317,273 | 27,336,778 | 19,506 |
ENST00000520933.7 | hg19 | chr8 | 27,318,615 | 27,336,530 | 17,916 |
ENST00000240132.7 | hg19 | chr8 | 27,319,120 | 27,336,368 | 17,249 |
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