Canonical Allele Identifier: CA342631127
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507771
ClinVar RCV Id: RCV002013623
dbSNP Id: rs2101521485
MyVariant Identifiers: chr1:g.154544228T>A (hg19) chr1:g.154571752T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571752T>A , CM000663.2:g.154571752T>A GRCh38
NC_000001.10:g.154544228T>A , CM000663.1:g.154544228T>A GRCh37
NC_000001.9:g.152810852T>A NCBI36
NG_008027.1:g.8972T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.929T>A MANE Select ENSP00000357461.3:p.Phe310Tyr
ENST00000636034.1:c.929T>A ENSP00000489703.1:p.Phe310Tyr
ENST00000637900.1:c.935T>A ENSP00000490474.1:p.Phe312Tyr
ENST00000368476.3:c.929T>A ENSP00000357461.3:p.Phe310Tyr
NM_000748.2:c.929T>A NP_000739.1:p.Phe310Tyr
XM_017000180.2:c.419T>A XP_016855669.1:p.Phe140Tyr
XR_001736952.2:n.1181T>A
NM_000748.3:c.929T>A MANE Select NP_000739.1:p.Phe310Tyr
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