Canonical Allele Identifier: CA1130799
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1767247
dbSNP Id: rs374883763

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571774C>T , CM000663.2:g.154571774C>T GRCh38
NC_000001.10:g.154544250C>T , CM000663.1:g.154544250C>T GRCh37
NC_000001.9:g.152810874C>T NCBI36
NG_008027.1:g.8994C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.951C>T MANE Select ENSP00000357461.3:p.Cys317=
ENST00000636034.1:c.951C>T ENSP00000489703.1:p.Cys317=
ENST00000637900.1:c.957C>T ENSP00000490474.1:p.Cys319=
ENST00000368476.3:c.951C>T ENSP00000357461.3:p.Cys317=
NM_000748.2:c.951C>T NP_000739.1:p.Cys317=
XM_017000180.2:c.441C>T XP_016855669.1:p.Cys147=
XR_001736952.2:n.1203C>T
NM_000748.3:c.951C>T MANE Select NP_000739.1:p.Cys317=