Canonical Allele Identifier: CA342630656
Gene: CHRNB2 HGNC NCBI

Linked Data

COSMIC: COSM675852

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571526C>T , CM000663.2:g.154571526C>T GRCh38
NC_000001.10:g.154544002C>T , CM000663.1:g.154544002C>T GRCh37
NC_000001.9:g.152810626C>T NCBI36
NG_008027.1:g.8746C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.703C>T MANE Select ENSP00000357461.3:p.Leu235Phe
ENST00000636034.1:c.703C>T ENSP00000489703.1:p.Leu235Phe
ENST00000637900.1:c.709C>T ENSP00000490474.1:p.Leu237Phe
ENST00000368476.3:c.703C>T ENSP00000357461.3:p.Leu235Phe
NM_000748.2:c.703C>T NP_000739.1:p.Leu235Phe
XM_017000180.2:c.193C>T XP_016855669.1:p.Leu65Phe
XR_001736952.2:n.955C>T
NM_000748.3:c.703C>T MANE Select NP_000739.1:p.Leu235Phe