CHRNB2 cholinergic receptor nicotinic beta 2 subunit

Information
Symbol
CHRNB2
Type
protein-coding
Description
cholinergic receptor nicotinic beta 2 subunit
Entrez Gene ID
1141
Genome
hg19
Position
chr1:154,540,254-154,552,489
Genome
hg38
Position
chr1:154,567,778-154,580,013
MIM
118507 OMIM
HGNC
HGNC:1962 HGNC
Ensembl
ENSG00000160716 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 8
Likely pathogenic 0 8
Benign 4 66
Likely benign 0 450
Conflicting classifications of pathogenicity 0 34
Uncertain significance 0 594
Ranking
ClinVar
0
0
234
858
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
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
SYNONYM EFNL3
SYNONYM nAChRB2
MIM 118507 OMIM
HGNC HGNC:1962 HGNC
Ensembl ENSG00000160716 Ensembl
AllianceGenome HGNC:1962
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000637900.1 hg38 chr1 154,567,835 154,576,597 8,763
ENST00000368476.4 hg38 chr1 154,567,778 154,580,013 12,236
ENST00000368476.4 hg19 chr1 154,540,254 154,552,489 12,236
ENST00000637900.1 hg19 chr1 154,540,311 154,549,073 8,763
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