Canonical Allele Identifier: CA342630096
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1913065
ClinVar RCV Id: RCV002593588
MyVariant Identifiers: chr1:g.154543769T>A (hg19) chr1:g.154571293T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571293T>A , CM000663.2:g.154571293T>A GRCh38
NC_000001.10:g.154543769T>A , CM000663.1:g.154543769T>A GRCh37
NC_000001.9:g.152810393T>A NCBI36
NG_008027.1:g.8513T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.470T>A MANE Select ENSP00000357461.3:p.Ile157Asn
ENST00000636034.1:c.470T>A ENSP00000489703.1:p.Ile157Asn
ENST00000637900.1:c.476T>A ENSP00000490474.1:p.Ile159Asn
ENST00000368476.3:c.470T>A ENSP00000357461.3:p.Ile157Asn
NM_000748.2:c.470T>A NP_000739.1:p.Ile157Asn
XM_017000180.2:c.-9-32T>A XP_016855669.1:n.-9-32T>A
XR_001736952.2:n.722T>A
NM_000748.3:c.470T>A MANE Select NP_000739.1:p.Ile157Asn
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