Canonical Allele Identifier: CA421230980
Gene: CHRNB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.154544040C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571564C>A , CM000663.2:g.154571564C>A GRCh38
NC_000001.10:g.154544040C>A , CM000663.1:g.154544040C>A GRCh37
NC_000001.9:g.152810664C>A NCBI36
NG_008027.1:g.8784C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.741C>A MANE Select ENSP00000357461.3:p.Leu247=
ENST00000636034.1:c.741C>A ENSP00000489703.1:p.Leu247=
ENST00000637900.1:c.747C>A ENSP00000490474.1:p.Leu249=
ENST00000368476.3:c.741C>A ENSP00000357461.3:p.Leu247=
NM_000748.2:c.741C>A NP_000739.1:p.Leu247=
XM_017000180.2:c.231C>A XP_016855669.1:p.Leu77=
XR_001736952.2:n.993C>A
NM_000748.3:c.741C>A MANE Select NP_000739.1:p.Leu247=