Canonical Allele Identifier: CA271354

Gene: CHRNB2

Linked Data

• ClinVar Variation Id: 158332
• ClinVar RCV Id: RCV001258263 ; RCV002312637 ; RCV003952700
• dbSNP Id: rs79137415
• ExAC: 1:154548331 T / C
• gnomAD v2: 1-154548331-T-C
• gnomAD v3: 1-154575855-T-C
• gnomAD v4: 1-154575855-T-C
• MyVariant Identifiers: chr1:g.154548331T>C (hg19) ; chr1:g.154575855T>C (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154575855T>C , CM000663.2:g.154575855T>C	GRCh38
NC_000001.10:g.154548331T>C , CM000663.1:g.154548331T>C	GRCh37
NC_000001.9:g.152814955T>C	NCBI36
NG_008027.1:g.13075T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368476.4:c.1432T>C MANE Select	ENSP00000357461.3:p.Phe478Leu
ENST00000636034.1:c.1432T>C	ENSP00000489703.1:p.Phe478Leu
ENST00000637900.1:c.1438T>C	ENSP00000490474.1:p.Phe480Leu
ENST00000368476.3:c.1432T>C	ENSP00000357461.3:p.Phe478Leu
NM_000748.2:c.1432T>C	NP_000739.1:p.Phe478Leu
XM_017000180.2:c.922T>C	XP_016855669.1:p.Phe308Leu
XR_001736952.2:n.1684T>C
NM_000748.3:c.1432T>C MANE Select	NP_000739.1:p.Phe478Leu