Canonical Allele Identifier: CA342629921
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571212C>T , CM000663.2:g.154571212C>T GRCh38
NC_000001.10:g.154543688C>T , CM000663.1:g.154543688C>T GRCh37
NC_000001.9:g.152810312C>T NCBI36
NG_008027.1:g.8432C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.389C>T MANE Select ENSP00000357461.3:p.Ser130Phe
ENST00000636034.1:c.389C>T ENSP00000489703.1:p.Ser130Phe
ENST00000637900.1:c.395C>T ENSP00000490474.1:p.Ser132Phe
ENST00000368476.3:c.389C>T ENSP00000357461.3:p.Ser130Phe
NM_000748.2:c.389C>T NP_000739.1:p.Ser130Phe
XM_017000180.2:c.-9-113C>T XP_016855669.1:n.-9-113C>T
XR_001736952.2:n.641C>T
NM_000748.3:c.389C>T MANE Select NP_000739.1:p.Ser130Phe