Canonical Allele Identifier: CA421230881
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1146023
ClinVar RCV Id: RCV001485120
dbSNP Id: rs2101520429
MyVariant Identifiers: chr1:g.154543797G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571321G>A , CM000663.2:g.154571321G>A GRCh38
NC_000001.10:g.154543797G>A , CM000663.1:g.154543797G>A GRCh37
NC_000001.9:g.152810421G>A NCBI36
NG_008027.1:g.8541G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.498G>A MANE Select ENSP00000357461.3:p.Gln166=
ENST00000636034.1:c.498G>A ENSP00000489703.1:p.Gln166=
ENST00000637900.1:c.504G>A ENSP00000490474.1:p.Gln168=
ENST00000368476.3:c.498G>A ENSP00000357461.3:p.Gln166=
NM_000748.2:c.498G>A NP_000739.1:p.Gln166=
XM_017000180.2:c.-9-4G>A XP_016855669.1:n.-9-4G>A
XR_001736952.2:n.750G>A
NM_000748.3:c.498G>A MANE Select NP_000739.1:p.Gln166=