Canonical Allele Identifier: CA342631057

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571719-A-G
• MyVariant Identifiers: chr1:g.154544195A>G (hg19) ; chr1:g.154571719A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571719A>G , CM000663.2:g.154571719A>G	GRCh38
NC_000001.10:g.154544195A>G , CM000663.1:g.154544195A>G	GRCh37
NC_000001.9:g.152810819A>G	NCBI36
NG_008027.1:g.8939A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.896A>G MANE Select	ENSP00000357461.3:p.Lys299Arg
ENST00000636034.1:c.896A>G	ENSP00000489703.1:p.Lys299Arg
ENST00000637900.1:c.902A>G	ENSP00000490474.1:p.Lys301Arg
ENST00000368476.3:c.896A>G	ENSP00000357461.3:p.Lys299Arg
NM_000748.2:c.896A>G	NP_000739.1:p.Lys299Arg
XM_017000180.2:c.386A>G	XP_016855669.1:p.Lys129Arg
XR_001736952.2:n.1148A>G
NM_000748.3:c.896A>G MANE Select	NP_000739.1:p.Lys299Arg