Canonical Allele Identifier: CA342630541
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571472G>C , CM000663.2:g.154571472G>C GRCh38
NC_000001.10:g.154543948G>C , CM000663.1:g.154543948G>C GRCh37
NC_000001.9:g.152810572G>C NCBI36
NG_008027.1:g.8692G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.649G>C MANE Select ENSP00000357461.3:p.Asp217His
ENST00000636034.1:c.649G>C ENSP00000489703.1:p.Asp217His
ENST00000637900.1:c.655G>C ENSP00000490474.1:p.Asp219His
ENST00000368476.3:c.649G>C ENSP00000357461.3:p.Asp217His
NM_000748.2:c.649G>C NP_000739.1:p.Asp217His
XM_017000180.2:c.139G>C XP_016855669.1:p.Asp47His
XR_001736952.2:n.901G>C
NM_000748.3:c.649G>C MANE Select NP_000739.1:p.Asp217His