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
0
0
306
1,002
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
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
TypeID
MIM 118502 OMIM
HGNC HGNC:1956 HGNC
Ensembl ENSG00000120903 Ensembl
AllianceGenome HGNC:1956
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
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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