Canonical Allele Identifier: CA342631004

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1188872718
• gnomAD v2: 1-154544168-C-T
• gnomAD v4: 1-154571692-C-T
• MyVariant Identifiers: chr1:g.154544168C>T (hg19) ; chr1:g.154571692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571692C>T , CM000663.2:g.154571692C>T	GRCh38
NC_000001.10:g.154544168C>T , CM000663.1:g.154544168C>T	GRCh37
NC_000001.9:g.152810792C>T	NCBI36
NG_008027.1:g.8912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.869C>T MANE Select	ENSP00000357461.3:p.Thr290Ile
ENST00000636034.1:c.869C>T	ENSP00000489703.1:p.Thr290Ile
ENST00000637900.1:c.875C>T	ENSP00000490474.1:p.Thr292Ile
ENST00000368476.3:c.869C>T	ENSP00000357461.3:p.Thr290Ile
NM_000748.2:c.869C>T	NP_000739.1:p.Thr290Ile
XM_017000180.2:c.359C>T	XP_016855669.1:p.Thr120Ile
XR_001736952.2:n.1121C>T
NM_000748.3:c.869C>T MANE Select	NP_000739.1:p.Thr290Ile