Canonical Allele Identifier: CA342631140
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571757A>T , CM000663.2:g.154571757A>T GRCh38
NC_000001.10:g.154544233A>T , CM000663.1:g.154544233A>T GRCh37
NC_000001.9:g.152810857A>T NCBI36
NG_008027.1:g.8977A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.934A>T MANE Select ENSP00000357461.3:p.Ile312Phe
ENST00000636034.1:c.934A>T ENSP00000489703.1:p.Ile312Phe
ENST00000637900.1:c.940A>T ENSP00000490474.1:p.Ile314Phe
ENST00000368476.3:c.934A>T ENSP00000357461.3:p.Ile312Phe
NM_000748.2:c.934A>T NP_000739.1:p.Ile312Phe
XM_017000180.2:c.424A>T XP_016855669.1:p.Ile142Phe
XR_001736952.2:n.1186A>T
NM_000748.3:c.934A>T MANE Select NP_000739.1:p.Ile312Phe