Canonical Allele Identifier: CA341464
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17496
ClinVar RCV Id: RCV000019048 RCV001091721 RCV001216785 RCV003493411 RCV004018644
dbSNP Id: rs74315291
MyVariant Identifiers: chr1:g.154544158G>A (hg19) chr1:g.154571682G>A (hg38)
PubMed: PMID:11062464 PMID:11104662 PMID:20301348
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571682G>A , CM000663.2:g.154571682G>A GRCh38
NC_000001.10:g.154544158G>A , CM000663.1:g.154544158G>A GRCh37
NC_000001.9:g.152810782G>A NCBI36
NG_008027.1:g.8902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.859G>A MANE Select ENSP00000357461.3:p.Val287Met
ENST00000636034.1:c.859G>A ENSP00000489703.1:p.Val287Met
ENST00000637900.1:c.865G>A ENSP00000490474.1:p.Val289Met
ENST00000368476.3:c.859G>A ENSP00000357461.3:p.Val287Met
NM_000748.2:c.859G>A NP_000739.1:p.Val287Met
XM_017000180.2:c.349G>A XP_016855669.1:p.Val117Met
XR_001736952.2:n.1111G>A
NM_000748.3:c.859G>A MANE Select NP_000739.1:p.Val287Met
Search 100 bp 5'
Search 100 bp 3'