Canonical Allele Identifier: CA342631182

Gene: CHRNB2

Linked Data

• ClinVar Variation Id: 2714282
• ClinVar RCV Id: RCV003583398
• MyVariant Identifiers: chr1:g.154544254C>G (hg19) ; chr1:g.154571778C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571778C>G , CM000663.2:g.154571778C>G	GRCh38
NC_000001.10:g.154544254C>G , CM000663.1:g.154544254C>G	GRCh37
NC_000001.9:g.152810878C>G	NCBI36
NG_008027.1:g.8998C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.955C>G MANE Select	ENSP00000357461.3:p.Leu319Val
ENST00000636034.1:c.955C>G	ENSP00000489703.1:p.Leu319Val
ENST00000637900.1:c.961C>G	ENSP00000490474.1:p.Leu321Val
ENST00000368476.3:c.955C>G	ENSP00000357461.3:p.Leu319Val
NM_000748.2:c.955C>G	NP_000739.1:p.Leu319Val
XM_017000180.2:c.445C>G	XP_016855669.1:p.Leu149Val
XR_001736952.2:n.1207C>G
NM_000748.3:c.955C>G MANE Select	NP_000739.1:p.Leu319Val