Canonical Allele Identifier: CA421231273
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2990520
ClinVar RCV Id: RCV003847199
dbSNP Id: rs1696168822
gnomAD v4: 1-154571708-G-A
COSMIC: COSM386127
MyVariant Identifiers: chr1:g.154544184G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571708G>A , CM000663.2:g.154571708G>A GRCh38
NC_000001.10:g.154544184G>A , CM000663.1:g.154544184G>A GRCh37
NC_000001.9:g.152810808G>A NCBI36
NG_008027.1:g.8928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.885G>A MANE Select ENSP00000357461.3:p.Pro295=
ENST00000636034.1:c.885G>A ENSP00000489703.1:p.Pro295=
ENST00000637900.1:c.891G>A ENSP00000490474.1:p.Pro297=
ENST00000368476.3:c.885G>A ENSP00000357461.3:p.Pro295=
NM_000748.2:c.885G>A NP_000739.1:p.Pro295=
XM_017000180.2:c.375G>A XP_016855669.1:p.Pro125=
XR_001736952.2:n.1137G>A
NM_000748.3:c.885G>A MANE Select NP_000739.1:p.Pro295=
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