Canonical Allele Identifier: CA421231336
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1279805
ClinVar RCV Id: RCV001693378
dbSNP Id: rs1484238390
gnomAD v4: 1-154571744-T-G
MyVariant Identifiers: chr1:g.154544220T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571744T>G , CM000663.2:g.154571744T>G GRCh38
NC_000001.10:g.154544220T>G , CM000663.1:g.154544220T>G GRCh37
NC_000001.9:g.152810844T>G NCBI36
NG_008027.1:g.8964T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.921T>G MANE Select ENSP00000357461.3:p.Leu307=
ENST00000636034.1:c.921T>G ENSP00000489703.1:p.Leu307=
ENST00000637900.1:c.927T>G ENSP00000490474.1:p.Leu309=
ENST00000368476.3:c.921T>G ENSP00000357461.3:p.Leu307=
NM_000748.2:c.921T>G NP_000739.1:p.Leu307=
XM_017000180.2:c.411T>G XP_016855669.1:p.Leu137=
XR_001736952.2:n.1173T>G
NM_000748.3:c.921T>G MANE Select NP_000739.1:p.Leu307=
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