Canonical Allele Identifier: CA30834056
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs201024705
gnomAD v3: 1-154571204-C-T
gnomAD v4: 1-154571204-C-T
COSMIC: COSM4651959
MyVariant Identifiers: chr1:g.154543680C>T (hg19) chr1:g.154571204C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571204C>T , CM000663.2:g.154571204C>T GRCh38
NC_000001.10:g.154543680C>T , CM000663.1:g.154543680C>T GRCh37
NC_000001.9:g.152810304C>T NCBI36
NG_008027.1:g.8424C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.381C>T MANE Select ENSP00000357461.3:p.Tyr127=
ENST00000636034.1:c.381C>T ENSP00000489703.1:p.Tyr127=
ENST00000637900.1:c.387C>T ENSP00000490474.1:p.Tyr129=
ENST00000368476.3:c.381C>T ENSP00000357461.3:p.Tyr127=
NM_000748.2:c.381C>T NP_000739.1:p.Tyr127=
XM_017000180.2:c.-9-121C>T XP_016855669.1:n.-9-121C>T
XR_001736952.2:n.633C>T
NM_000748.3:c.381C>T MANE Select NP_000739.1:p.Tyr127=
Search 100 bp 5'
Search 100 bp 3'