Canonical Allele Identifier: CA30834462

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1003950436
• gnomAD v4: 1-154571519-C-A
• MyVariant Identifiers: chr1:g.154543995C>A (hg19) ; chr1:g.154571519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571519C>A , CM000663.2:g.154571519C>A	GRCh38
NC_000001.10:g.154543995C>A , CM000663.1:g.154543995C>A	GRCh37
NC_000001.9:g.152810619C>A	NCBI36
NG_008027.1:g.8739C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.696C>A MANE Select	ENSP00000357461.3:p.Arg232=
ENST00000636034.1:c.696C>A	ENSP00000489703.1:p.Arg232=
ENST00000637900.1:c.702C>A	ENSP00000490474.1:p.Arg234=
ENST00000368476.3:c.696C>A	ENSP00000357461.3:p.Arg232=
NM_000748.2:c.696C>A	NP_000739.1:p.Arg232=
XM_017000180.2:c.186C>A	XP_016855669.1:p.Arg62=
XR_001736952.2:n.948C>A
NM_000748.3:c.696C>A MANE Select	NP_000739.1:p.Arg232=