Canonical Allele Identifier: CA342630035
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571266C>A , CM000663.2:g.154571266C>A GRCh38
NC_000001.10:g.154543742C>A , CM000663.1:g.154543742C>A GRCh37
NC_000001.9:g.152810366C>A NCBI36
NG_008027.1:g.8486C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.443C>A MANE Select ENSP00000357461.3:p.Pro148His
ENST00000636034.1:c.443C>A ENSP00000489703.1:p.Pro148His
ENST00000637900.1:c.449C>A ENSP00000490474.1:p.Pro150His
ENST00000368476.3:c.443C>A ENSP00000357461.3:p.Pro148His
NM_000748.2:c.443C>A NP_000739.1:p.Pro148His
XM_017000180.2:c.-9-59C>A XP_016855669.1:n.-9-59C>A
XR_001736952.2:n.695C>A
NM_000748.3:c.443C>A MANE Select NP_000739.1:p.Pro148His