Canonical Allele Identifier: CA2648170502
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2851709
ClinVar RCV Id: RCV003746026
gnomAD v4: 1-154571642-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571643del , CM000663.2:g.154571643del GRCh38
NC_000001.10:g.154544119del , CM000663.1:g.154544119del GRCh37
NC_000001.9:g.152810743del NCBI36
NG_008027.1:g.8863del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.820del MANE Select ENSP00000357461.3:p.Leu274TrpfsTer?
ENST00000636034.1:c.820del ENSP00000489703.1:p.Leu274TrpfsTer?
ENST00000637900.1:c.826del ENSP00000490474.1:p.Leu276TrpfsTer?
ENST00000368476.3:c.820del ENSP00000357461.3:p.Leu274TrpfsTer?
NM_000748.2:c.820del NP_000739.1:p.Leu274TrpfsTer?
XM_017000180.2:c.310del XP_016855669.1:p.Leu104TrpfsTer?
XR_001736952.2:n.1072del
NM_000748.3:c.820del MANE Select NP_000739.1:p.Leu274TrpfsTer?
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