Canonical Allele Identifier: CA313649
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205066
ClinVar RCV Id: RCV000186986 RCV000416529 RCV001262983 RCV001213692 RCV002513986
dbSNP Id: rs199885651
ExAC: 1:154542807 A / C
gnomAD v2: 1-154542807-A-C
gnomAD v3: 1-154570331-A-C
gnomAD v4: 1-154570331-A-C
MyVariant Identifiers: chr1:g.154542807A>C (hg19) chr1:g.154570331A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154570331A>C , CM000663.2:g.154570331A>C GRCh38
NC_000001.10:g.154542807A>C , CM000663.1:g.154542807A>C GRCh37
NC_000001.9:g.152809431A>C NCBI36
NG_008027.1:g.7551A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.329A>C MANE Select ENSP00000357461.3:p.Lys110Thr
ENST00000636034.1:c.329A>C ENSP00000489703.1:p.Lys110Thr
ENST00000637900.1:c.335A>C ENSP00000490474.1:p.Lys112Thr
ENST00000368476.3:c.329A>C ENSP00000357461.3:p.Lys110Thr
NM_000748.2:c.329A>C NP_000739.1:p.Lys110Thr
XM_017000180.2:c.-46A>C XP_016855669.1:n.-46A>C
XR_001736952.2:n.581A>C
NM_000748.3:c.329A>C MANE Select NP_000739.1:p.Lys110Thr
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