Canonical Allele Identifier: CA342631175

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1696170476
• gnomAD v4: 1-154571775-G-A
• MyVariant Identifiers: chr1:g.154544251G>A (hg19) ; chr1:g.154571775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571775G>A , CM000663.2:g.154571775G>A	GRCh38
NC_000001.10:g.154544251G>A , CM000663.1:g.154544251G>A	GRCh37
NC_000001.9:g.152810875G>A	NCBI36
NG_008027.1:g.8995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.952G>A MANE Select	ENSP00000357461.3:p.Val318Met
ENST00000636034.1:c.952G>A	ENSP00000489703.1:p.Val318Met
ENST00000637900.1:c.958G>A	ENSP00000490474.1:p.Val320Met
ENST00000368476.3:c.952G>A	ENSP00000357461.3:p.Val318Met
NM_000748.2:c.952G>A	NP_000739.1:p.Val318Met
XM_017000180.2:c.442G>A	XP_016855669.1:p.Val148Met
XR_001736952.2:n.1204G>A
NM_000748.3:c.952G>A MANE Select	NP_000739.1:p.Val318Met