Canonical Allele Identifier: CA313651
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205067
ClinVar RCV Id: RCV000186987
dbSNP Id: rs776372933
ExAC: 1:154543848 C / G
gnomAD v2: 1-154543848-C-G
gnomAD v3: 1-154571372-C-G
gnomAD v4: 1-154571372-C-G
MyVariant Identifiers: chr1:g.154543848C>G (hg19) chr1:g.154571372C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571372C>G , CM000663.2:g.154571372C>G GRCh38
NC_000001.10:g.154543848C>G , CM000663.1:g.154543848C>G GRCh37
NC_000001.9:g.152810472C>G NCBI36
NG_008027.1:g.8592C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.549C>G MANE Select ENSP00000357461.3:p.Ile183Met
ENST00000636034.1:c.549C>G ENSP00000489703.1:p.Ile183Met
ENST00000637900.1:c.555C>G ENSP00000490474.1:p.Ile185Met
ENST00000368476.3:c.549C>G ENSP00000357461.3:p.Ile183Met
NM_000748.2:c.549C>G NP_000739.1:p.Ile183Met
XM_017000180.2:c.39C>G XP_016855669.1:p.Ile13Met
XR_001736952.2:n.801C>G
NM_000748.3:c.549C>G MANE Select NP_000739.1:p.Ile183Met
Search 100 bp 5'
Search 100 bp 3'