Canonical Allele Identifier: CA342631043

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1415028557
• gnomAD v2: 1-154544188-G-A
• gnomAD v4: 1-154571712-G-A
• MyVariant Identifiers: chr1:g.154544188G>A (hg19) ; chr1:g.154571712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571712G>A , CM000663.2:g.154571712G>A	GRCh38
NC_000001.10:g.154544188G>A , CM000663.1:g.154544188G>A	GRCh37
NC_000001.9:g.152810812G>A	NCBI36
NG_008027.1:g.8932G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.889G>A MANE Select	ENSP00000357461.3:p.Val297Ile
ENST00000636034.1:c.889G>A	ENSP00000489703.1:p.Val297Ile
ENST00000637900.1:c.895G>A	ENSP00000490474.1:p.Val299Ile
ENST00000368476.3:c.889G>A	ENSP00000357461.3:p.Val297Ile
NM_000748.2:c.889G>A	NP_000739.1:p.Val297Ile
XM_017000180.2:c.379G>A	XP_016855669.1:p.Val127Ile
XR_001736952.2:n.1141G>A
NM_000748.3:c.889G>A MANE Select	NP_000739.1:p.Val297Ile