Canonical Allele Identifier: CA889603882

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1229012590
• gnomAD v4: 1-154576077-C-T
• MyVariant Identifiers: chr1:g.154548553C>T (hg19) ; chr1:g.154576077C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154576077C>T , CM000663.2:g.154576077C>T	GRCh38
NC_000001.10:g.154548553C>T , CM000663.1:g.154548553C>T	GRCh37
NC_000001.9:g.152815177C>T	NCBI36
NG_008027.1:g.13297C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368476.4:c.*145C>T MANE Select	ENSP00000357461.3:n.*145C>T
ENST00000636034.1:c.1505+149C>T	ENSP00000489703.1:n.1505+149C>T
ENST00000637900.1:c.*145C>T	ENSP00000490474.1:n.*145C>T
ENST00000368476.3:c.*145C>T	ENSP00000357461.3:n.*145C>T
NM_000748.2:c.*145C>T	NP_000739.1:n.*145C>T
XM_017000180.2:c.*145C>T	XP_016855669.1:n.*145C>T
XR_001736952.2:n.1906C>T
NM_000748.3:c.*145C>T MANE Select	NP_000739.1:n.*145C>T