Canonical Allele Identifier: CA421231198
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1650874
ClinVar RCV Id: RCV002149250
dbSNP Id: rs1322383536
gnomAD v2: 1-154544145-C-T
gnomAD v4: 1-154571669-C-T
MyVariant Identifiers: chr1:g.154544145C>T (hg19) chr1:g.154571669C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571669C>T , CM000663.2:g.154571669C>T GRCh38
NC_000001.10:g.154544145C>T , CM000663.1:g.154544145C>T GRCh37
NC_000001.9:g.152810769C>T NCBI36
NG_008027.1:g.8889C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.846C>T MANE Select ENSP00000357461.3:p.Leu282=
ENST00000636034.1:c.846C>T ENSP00000489703.1:p.Leu282=
ENST00000637900.1:c.852C>T ENSP00000490474.1:p.Leu284=
ENST00000368476.3:c.846C>T ENSP00000357461.3:p.Leu282=
NM_000748.2:c.846C>T NP_000739.1:p.Leu282=
XM_017000180.2:c.336C>T XP_016855669.1:p.Leu112=
XR_001736952.2:n.1098C>T
NM_000748.3:c.846C>T MANE Select NP_000739.1:p.Leu282=
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Search 100 bp 3'