Canonical Allele Identifier: CA342631025
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2768938
ClinVar RCV Id: RCV003583982
dbSNP Id: rs1345782620
gnomAD v2: 1-154544179-G-A
gnomAD v4: 1-154571703-G-A
MyVariant Identifiers: chr1:g.154544179G>A (hg19) chr1:g.154571703G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571703G>A , CM000663.2:g.154571703G>A GRCh38
NC_000001.10:g.154544179G>A , CM000663.1:g.154544179G>A GRCh37
NC_000001.9:g.152810803G>A NCBI36
NG_008027.1:g.8923G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.880G>A MANE Select ENSP00000357461.3:p.Val294Met
ENST00000636034.1:c.880G>A ENSP00000489703.1:p.Val294Met
ENST00000637900.1:c.886G>A ENSP00000490474.1:p.Val296Met
ENST00000368476.3:c.880G>A ENSP00000357461.3:p.Val294Met
NM_000748.2:c.880G>A NP_000739.1:p.Val294Met
XM_017000180.2:c.370G>A XP_016855669.1:p.Val124Met
XR_001736952.2:n.1132G>A
NM_000748.3:c.880G>A MANE Select NP_000739.1:p.Val294Met
Search 100 bp 5'
Search 100 bp 3'