Canonical Allele Identifier: CA341463
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17495
ClinVar RCV Id: RCV000019047
dbSNP Id: rs74315291
MyVariant Identifiers: chr1:g.154544158G>C (hg19) chr1:g.154571682G>C (hg38)
PubMed: PMID:11062464 PMID:11094099 PMID:20301348
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.859G>C MANE Select ENSP00000357461.3:p.Val287Leu
ENST00000636034.1:c.859G>C ENSP00000489703.1:p.Val287Leu
ENST00000637900.1:c.865G>C ENSP00000490474.1:p.Val289Leu
ENST00000368476.3:c.859G>C ENSP00000357461.3:p.Val287Leu
NM_000748.2:c.859G>C NP_000739.1:p.Val287Leu
XM_017000180.2:c.349G>C XP_016855669.1:p.Val117Leu
XR_001736952.2:n.1111G>C
NM_000748.3:c.859G>C MANE Select NP_000739.1:p.Val287Leu
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