Canonical Allele Identifier: CA16616985
Gene: CHRNB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421485
ClinVar RCV Id: RCV000484907
dbSNP Id: rs367833033

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571761T>C , CM000663.2:g.154571761T>C GRCh38
NC_000001.10:g.154544237T>C , CM000663.1:g.154544237T>C GRCh37
NC_000001.9:g.152810861T>C NCBI36
NG_008027.1:g.8981T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.938T>C MANE Select ENSP00000357461.3:p.Val313Ala
ENST00000636034.1:c.938T>C ENSP00000489703.1:p.Val313Ala
ENST00000637900.1:c.944T>C ENSP00000490474.1:p.Val315Ala
ENST00000368476.3:c.938T>C ENSP00000357461.3:p.Val313Ala
NM_000748.2:c.938T>C NP_000739.1:p.Val313Ala
XM_017000180.2:c.428T>C XP_016855669.1:p.Val143Ala
XR_001736952.2:n.1190T>C
NM_000748.3:c.938T>C MANE Select NP_000739.1:p.Val313Ala