Canonical Allele Identifier: CA30834668
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 840970
ClinVar RCV Id: RCV001043096 RCV001809964
dbSNP Id: rs200720061
gnomAD v2: 1-154544218-C-A
gnomAD v3: 1-154571742-C-A
gnomAD v4: 1-154571742-C-A
MyVariant Identifiers: chr1:g.154544218C>A (hg19) chr1:g.154571742C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571742C>A , CM000663.2:g.154571742C>A GRCh38
NC_000001.10:g.154544218C>A , CM000663.1:g.154544218C>A GRCh37
NC_000001.9:g.152810842C>A NCBI36
NG_008027.1:g.8962C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.919C>A MANE Select ENSP00000357461.3:p.Leu307Ile
ENST00000636034.1:c.919C>A ENSP00000489703.1:p.Leu307Ile
ENST00000637900.1:c.925C>A ENSP00000490474.1:p.Leu309Ile
ENST00000368476.3:c.919C>A ENSP00000357461.3:p.Leu307Ile
NM_000748.2:c.919C>A NP_000739.1:p.Leu307Ile
XM_017000180.2:c.409C>A XP_016855669.1:p.Leu137Ile
XR_001736952.2:n.1171C>A
NM_000748.3:c.919C>A MANE Select NP_000739.1:p.Leu307Ile
Search 100 bp 5'
Search 100 bp 3'