Canonical Allele Identifier: CA2480925234
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2060851
ClinVar RCV Id: RCV002938892
dbSNP Id: rs1696161255
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571367del , CM000663.2:g.154571367del GRCh38
NC_000001.10:g.154543843del , CM000663.1:g.154543843del GRCh37
NC_000001.9:g.152810467del NCBI36
NG_008027.1:g.8587del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.544del MANE Select ENSP00000357461.3:p.Glu182ArgfsTer6
ENST00000636034.1:c.544del ENSP00000489703.1:p.Glu182ArgfsTer6
ENST00000637900.1:c.550del ENSP00000490474.1:p.Glu184ArgfsTer6
ENST00000368476.3:c.544del ENSP00000357461.3:p.Glu182ArgfsTer6
NM_000748.2:c.544del NP_000739.1:p.Glu182ArgfsTer6
XM_017000180.2:c.34del XP_016855669.1:p.Glu12ArgfsTer6
XR_001736952.2:n.796del
NM_000748.3:c.544del MANE Select NP_000739.1:p.Glu182ArgfsTer6
Search 100 bp 5'
Search 100 bp 3'