Canonical Allele Identifier: CA421231185
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 510649
ClinVar RCV Id: RCV000610591
dbSNP Id: rs1553204296
gnomAD v4: 1-154571664-C-T
MyVariant Identifiers: chr1:g.154544140C>T (hg19) chr1:g.154571664C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571664C>T , CM000663.2:g.154571664C>T GRCh38
NC_000001.10:g.154544140C>T , CM000663.1:g.154544140C>T GRCh37
NC_000001.9:g.152810764C>T NCBI36
NG_008027.1:g.8884C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.841C>T MANE Select ENSP00000357461.3:p.Leu281=
ENST00000636034.1:c.841C>T ENSP00000489703.1:p.Leu281=
ENST00000637900.1:c.847C>T ENSP00000490474.1:p.Leu283=
ENST00000368476.3:c.841C>T ENSP00000357461.3:p.Leu281=
NM_000748.2:c.841C>T NP_000739.1:p.Leu281=
XM_017000180.2:c.331C>T XP_016855669.1:p.Leu111=
XR_001736952.2:n.1093C>T
NM_000748.3:c.841C>T MANE Select NP_000739.1:p.Leu281=
Search 100 bp 5'
Search 100 bp 3'