Canonical Allele Identifier: CA342629972
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1958867
ClinVar RCV Id: RCV002725681
dbSNP Id: rs1466236236
gnomAD v2: 1-154543715-A-G
gnomAD v4: 1-154571239-A-G
MyVariant Identifiers: chr1:g.154543715A>G (hg19) chr1:g.154571239A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571239A>G , CM000663.2:g.154571239A>G GRCh38
NC_000001.10:g.154543715A>G , CM000663.1:g.154543715A>G GRCh37
NC_000001.9:g.152810339A>G NCBI36
NG_008027.1:g.8459A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.416A>G MANE Select ENSP00000357461.3:p.Tyr139Cys
ENST00000636034.1:c.416A>G ENSP00000489703.1:p.Tyr139Cys
ENST00000637900.1:c.422A>G ENSP00000490474.1:p.Tyr141Cys
ENST00000368476.3:c.416A>G ENSP00000357461.3:p.Tyr139Cys
NM_000748.2:c.416A>G NP_000739.1:p.Tyr139Cys
XM_017000180.2:c.-9-86A>G XP_016855669.1:n.-9-86A>G
XR_001736952.2:n.668A>G
NM_000748.3:c.416A>G MANE Select NP_000739.1:p.Tyr139Cys
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