Canonical Allele Identifier: CA1139656332
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 964307
ClinVar RCV Id: RCV001238501
dbSNP Id: rs1696170002
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571753del , CM000663.2:g.154571753del GRCh38
NC_000001.10:g.154544229del , CM000663.1:g.154544229del GRCh37
NC_000001.9:g.152810853del NCBI36
NG_008027.1:g.8973del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.930del MANE Select ENSP00000357461.3:p.Ser311ProfsTer25
ENST00000636034.1:c.930del ENSP00000489703.1:p.Ser311ProfsTer25
ENST00000637900.1:c.936del ENSP00000490474.1:p.Ser313ProfsTer25
ENST00000368476.3:c.930del ENSP00000357461.3:p.Ser311ProfsTer25
NM_000748.2:c.930del NP_000739.1:p.Ser311ProfsTer25
XM_017000180.2:c.420del XP_016855669.1:p.Ser141ProfsTer25
XR_001736952.2:n.1182del
NM_000748.3:c.930del MANE Select NP_000739.1:p.Ser311ProfsTer25
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