Canonical Allele Identifier: CA1130794

Gene: CHRNB2

Linked Data

• dbSNP Id: rs755914666
• ExAC: 1:154544221 G / A
• gnomAD v2: 1-154544221-G-A
• MyVariant Identifiers: chr1:g.154544221G>A (hg19) ; chr1:g.154571745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571745G>A , CM000663.2:g.154571745G>A	GRCh38
NC_000001.10:g.154544221G>A , CM000663.1:g.154544221G>A	GRCh37
NC_000001.9:g.152810845G>A	NCBI36
NG_008027.1:g.8965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.922G>A MANE Select	ENSP00000357461.3:p.Val308Ile
ENST00000636034.1:c.922G>A	ENSP00000489703.1:p.Val308Ile
ENST00000637900.1:c.928G>A	ENSP00000490474.1:p.Val310Ile
ENST00000368476.3:c.922G>A	ENSP00000357461.3:p.Val308Ile
NM_000748.2:c.922G>A	NP_000739.1:p.Val308Ile
XM_017000180.2:c.412G>A	XP_016855669.1:p.Val138Ile
XR_001736952.2:n.1174G>A
NM_000748.3:c.922G>A MANE Select	NP_000739.1:p.Val308Ile