Canonical Allele Identifier: CA342630402
Gene: CHRNB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571404T>G , CM000663.2:g.154571404T>G GRCh38
NC_000001.10:g.154543880T>G , CM000663.1:g.154543880T>G GRCh37
NC_000001.9:g.152810504T>G NCBI36
NG_008027.1:g.8624T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.581T>G MANE Select ENSP00000357461.3:p.Leu194Arg
ENST00000636034.1:c.581T>G ENSP00000489703.1:p.Leu194Arg
ENST00000637900.1:c.587T>G ENSP00000490474.1:p.Leu196Arg
ENST00000368476.3:c.581T>G ENSP00000357461.3:p.Leu194Arg
NM_000748.2:c.581T>G NP_000739.1:p.Leu194Arg
XM_017000180.2:c.71T>G XP_016855669.1:p.Leu24Arg
XR_001736952.2:n.833T>G
NM_000748.3:c.581T>G MANE Select NP_000739.1:p.Leu194Arg