Canonical Allele Identifier: CA1130798
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1767064
ClinVar RCV Id: RCV002374050
dbSNP Id: rs773957177
ExAC: 1:154544245 G / A
gnomAD v2: 1-154544245-G-A
gnomAD v4: 1-154571769-G-A
COSMIC: COSM206590
MyVariant Identifiers: chr1:g.154544245G>A (hg19) chr1:g.154571769G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571769G>A , CM000663.2:g.154571769G>A GRCh38
NC_000001.10:g.154544245G>A , CM000663.1:g.154544245G>A GRCh37
NC_000001.9:g.152810869G>A NCBI36
NG_008027.1:g.8989G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.946G>A MANE Select ENSP00000357461.3:p.Val316Met
ENST00000636034.1:c.946G>A ENSP00000489703.1:p.Val316Met
ENST00000637900.1:c.952G>A ENSP00000490474.1:p.Val318Met
ENST00000368476.3:c.946G>A ENSP00000357461.3:p.Val316Met
NM_000748.2:c.946G>A NP_000739.1:p.Val316Met
XM_017000180.2:c.436G>A XP_016855669.1:p.Val146Met
XR_001736952.2:n.1198G>A
NM_000748.3:c.946G>A MANE Select NP_000739.1:p.Val316Met
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