Canonical Allele Identifier: CA421231284
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 758968
ClinVar RCV Id: RCV000936727
dbSNP Id: rs1557851605
gnomAD v3: 1-154571492-C-T
gnomAD v4: 1-154571492-C-T
MyVariant Identifiers: chr1:g.154543968C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571492C>T , CM000663.2:g.154571492C>T GRCh38
NC_000001.10:g.154543968C>T , CM000663.1:g.154543968C>T GRCh37
NC_000001.9:g.152810592C>T NCBI36
NG_008027.1:g.8712C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.669C>T MANE Select ENSP00000357461.3:p.Asp223=
ENST00000636034.1:c.669C>T ENSP00000489703.1:p.Asp223=
ENST00000637900.1:c.675C>T ENSP00000490474.1:p.Asp225=
ENST00000368476.3:c.669C>T ENSP00000357461.3:p.Asp223=
NM_000748.2:c.669C>T NP_000739.1:p.Asp223=
XM_017000180.2:c.159C>T XP_016855669.1:p.Asp53=
XR_001736952.2:n.921C>T
NM_000748.3:c.669C>T MANE Select NP_000739.1:p.Asp223=
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