Canonical Allele Identifier: CA343934
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs281865071
gnomAD v4: 1-154571759-C-G
MyVariant Identifiers: chr1:g.154544235C>G (hg19) chr1:g.154571759C>G (hg38)
PubMed: PMID:20301348
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571759C>G , CM000663.2:g.154571759C>G GRCh38
NC_000001.10:g.154544235C>G , CM000663.1:g.154544235C>G GRCh37
NC_000001.9:g.152810859C>G NCBI36
NG_008027.1:g.8979C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.936C>G MANE Select ENSP00000357461.3:p.Ile312Met
ENST00000636034.1:c.936C>G ENSP00000489703.1:p.Ile312Met
ENST00000637900.1:c.942C>G ENSP00000490474.1:p.Ile314Met
ENST00000368476.3:c.936C>G ENSP00000357461.3:p.Ile312Met
NM_000748.2:c.936C>G NP_000739.1:p.Ile312Met
XM_017000180.2:c.426C>G XP_016855669.1:p.Ile142Met
XR_001736952.2:n.1188C>G
NM_000748.3:c.936C>G MANE Select NP_000739.1:p.Ile312Met
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