Canonical Allele Identifier: CA342630436
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571419C>A , CM000663.2:g.154571419C>A GRCh38
NC_000001.10:g.154543895C>A , CM000663.1:g.154543895C>A GRCh37
NC_000001.9:g.152810519C>A NCBI36
NG_008027.1:g.8639C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.596C>A MANE Select ENSP00000357461.3:p.Pro199His
ENST00000636034.1:c.596C>A ENSP00000489703.1:p.Pro199His
ENST00000637900.1:c.602C>A ENSP00000490474.1:p.Pro201His
ENST00000368476.3:c.596C>A ENSP00000357461.3:p.Pro199His
NM_000748.2:c.596C>A NP_000739.1:p.Pro199His
XM_017000180.2:c.86C>A XP_016855669.1:p.Pro29His
XR_001736952.2:n.848C>A
NM_000748.3:c.596C>A MANE Select NP_000739.1:p.Pro199His