Canonical Allele Identifier: CA343930
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs281865069
gnomAD v4: 1-154571724-C-G
MyVariant Identifiers: chr1:g.154544200C>G (hg19) chr1:g.154571724C>G (hg38)
PubMed: PMID:20301348
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571724C>G , CM000663.2:g.154571724C>G GRCh38
NC_000001.10:g.154544200C>G , CM000663.1:g.154544200C>G GRCh37
NC_000001.9:g.152810824C>G NCBI36
NG_008027.1:g.8944C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.901C>G MANE Select ENSP00000357461.3:p.Leu301Val
ENST00000636034.1:c.901C>G ENSP00000489703.1:p.Leu301Val
ENST00000637900.1:c.907C>G ENSP00000490474.1:p.Leu303Val
ENST00000368476.3:c.901C>G ENSP00000357461.3:p.Leu301Val
NM_000748.2:c.901C>G NP_000739.1:p.Leu301Val
XM_017000180.2:c.391C>G XP_016855669.1:p.Leu131Val
XR_001736952.2:n.1153C>G
NM_000748.3:c.901C>G MANE Select NP_000739.1:p.Leu301Val
Search 100 bp 5'
Search 100 bp 3'