Canonical Allele Identifier: CA420970450
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 477014
ClinVar RCV Id: RCV000542836
dbSNP Id: rs780464481
gnomAD v4: 1-154571264-G-A
COSMIC: COSM1334452
MyVariant Identifiers: chr1:g.154543740G>A (hg19) chr1:g.154571264G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571264G>A , CM000663.2:g.154571264G>A GRCh38
NC_000001.10:g.154543740G>A , CM000663.1:g.154543740G>A GRCh37
NC_000001.9:g.152810364G>A NCBI36
NG_008027.1:g.8484G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.441G>A MANE Select ENSP00000357461.3:p.Pro147=
ENST00000636034.1:c.441G>A ENSP00000489703.1:p.Pro147=
ENST00000637900.1:c.447G>A ENSP00000490474.1:p.Pro149=
ENST00000368476.3:c.441G>A ENSP00000357461.3:p.Pro147=
NM_000748.2:c.441G>A NP_000739.1:p.Pro147=
XM_017000180.2:c.-9-61G>A XP_016855669.1:n.-9-61G>A
XR_001736952.2:n.693G>A
NM_000748.3:c.441G>A MANE Select NP_000739.1:p.Pro147=
Search 100 bp 5'
Search 100 bp 3'