Canonical Allele Identifier: CA342631181
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571778C>A , CM000663.2:g.154571778C>A GRCh38
NC_000001.10:g.154544254C>A , CM000663.1:g.154544254C>A GRCh37
NC_000001.9:g.152810878C>A NCBI36
NG_008027.1:g.8998C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.955C>A MANE Select ENSP00000357461.3:p.Leu319Ile
ENST00000636034.1:c.955C>A ENSP00000489703.1:p.Leu319Ile
ENST00000637900.1:c.961C>A ENSP00000490474.1:p.Leu321Ile
ENST00000368476.3:c.955C>A ENSP00000357461.3:p.Leu319Ile
NM_000748.2:c.955C>A NP_000739.1:p.Leu319Ile
XM_017000180.2:c.445C>A XP_016855669.1:p.Leu149Ile
XR_001736952.2:n.1207C>A
NM_000748.3:c.955C>A MANE Select NP_000739.1:p.Leu319Ile