Canonical Allele Identifier: CA30834133
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1606699
ClinVar RCV Id: RCV002139466
dbSNP Id: rs538508561
gnomAD v2: 1-154543758-C-T
gnomAD v3: 1-154571282-C-T
gnomAD v4: 1-154571282-C-T
MyVariant Identifiers: chr1:g.154543758C>T (hg19) chr1:g.154571282C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571282C>T , CM000663.2:g.154571282C>T GRCh38
NC_000001.10:g.154543758C>T , CM000663.1:g.154543758C>T GRCh37
NC_000001.9:g.152810382C>T NCBI36
NG_008027.1:g.8502C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.459C>T MANE Select ENSP00000357461.3:p.Ser153=
ENST00000636034.1:c.459C>T ENSP00000489703.1:p.Ser153=
ENST00000637900.1:c.465C>T ENSP00000490474.1:p.Ser155=
ENST00000368476.3:c.459C>T ENSP00000357461.3:p.Ser153=
NM_000748.2:c.459C>T NP_000739.1:p.Ser153=
XM_017000180.2:c.-9-43C>T XP_016855669.1:n.-9-43C>T
XR_001736952.2:n.711C>T
NM_000748.3:c.459C>T MANE Select NP_000739.1:p.Ser153=
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