Canonical Allele Identifier: CA421231376
Gene: CHRNB2 HGNC NCBI

Linked Data

dbSNP Id: rs281865071
gnomAD v2: 1-154544235-C-T
gnomAD v3: 1-154571759-C-T
gnomAD v4: 1-154571759-C-T
COSMIC: COSM3474707
MyVariant Identifiers: chr1:g.154544235C>T (hg19) chr1:g.154571759C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.936C>T MANE Select ENSP00000357461.3:p.Ile312=
ENST00000636034.1:c.936C>T ENSP00000489703.1:p.Ile312=
ENST00000637900.1:c.942C>T ENSP00000490474.1:p.Ile314=
ENST00000368476.3:c.936C>T ENSP00000357461.3:p.Ile312=
NM_000748.2:c.936C>T NP_000739.1:p.Ile312=
XM_017000180.2:c.426C>T XP_016855669.1:p.Ile142=
XR_001736952.2:n.1188C>T
NM_000748.3:c.936C>T MANE Select NP_000739.1:p.Ile312=
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