Canonical Allele Identifier: CA421231068
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2197767
ClinVar RCV Id: RCV002637952
gnomAD v4: 1-154571624-G-C
MyVariant Identifiers: chr1:g.154544100G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571624G>C , CM000663.2:g.154571624G>C GRCh38
NC_000001.10:g.154544100G>C , CM000663.1:g.154544100G>C GRCh37
NC_000001.9:g.152810724G>C NCBI36
NG_008027.1:g.8844G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.801G>C MANE Select ENSP00000357461.3:p.Thr267=
ENST00000636034.1:c.801G>C ENSP00000489703.1:p.Thr267=
ENST00000637900.1:c.807G>C ENSP00000490474.1:p.Thr269=
ENST00000368476.3:c.801G>C ENSP00000357461.3:p.Thr267=
NM_000748.2:c.801G>C NP_000739.1:p.Thr267=
XM_017000180.2:c.291G>C XP_016855669.1:p.Thr97=
XR_001736952.2:n.1053G>C
NM_000748.3:c.801G>C MANE Select NP_000739.1:p.Thr267=
Search 100 bp 5'
Search 100 bp 3'