Canonical Allele Identifier: CA342629914
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571209T>C , CM000663.2:g.154571209T>C GRCh38
NC_000001.10:g.154543685T>C , CM000663.1:g.154543685T>C GRCh37
NC_000001.9:g.152810309T>C NCBI36
NG_008027.1:g.8429T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.386T>C MANE Select ENSP00000357461.3:p.Val129Ala
ENST00000636034.1:c.386T>C ENSP00000489703.1:p.Val129Ala
ENST00000637900.1:c.392T>C ENSP00000490474.1:p.Val131Ala
ENST00000368476.3:c.386T>C ENSP00000357461.3:p.Val129Ala
NM_000748.2:c.386T>C NP_000739.1:p.Val129Ala
XM_017000180.2:c.-9-116T>C XP_016855669.1:n.-9-116T>C
XR_001736952.2:n.638T>C
NM_000748.3:c.386T>C MANE Select NP_000739.1:p.Val129Ala