Canonical Allele Identifier: CA526666190

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1254144438
• gnomAD v2: 1-154544165-C-CGAGATCTA
• gnomAD v4: 1-154571689-C-CGAGATCTA
• MyVariant Identifiers: chr1:g.154544165_154544166insGAGATCTA (hg19) ; chr1:g.154571689_154571690insGAGATCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571689_154571690insGAGATCTA , CM000663.2:g.154571689_154571690insGAGATCTA	GRCh38
NC_000001.10:g.154544165_154544166insGAGATCTA , CM000663.1:g.154544165_154544166insGAGATCTA	GRCh37
NC_000001.9:g.152810789_152810790insGAGATCTA	NCBI36
NG_008027.1:g.8909_8910insGAGATCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.866_867insGAGATCTA MANE Select	ENSP00000357461.3:p.Thr290ArgfsTer?
ENST00000636034.1:c.866_867insGAGATCTA	ENSP00000489703.1:p.Thr290ArgfsTer?
ENST00000637900.1:c.872_873insGAGATCTA	ENSP00000490474.1:p.Thr292ArgfsTer?
ENST00000368476.3:c.866_867insGAGATCTA	ENSP00000357461.3:p.Thr290ArgfsTer?
NM_000748.2:c.866_867insGAGATCTA	NP_000739.1:p.Thr290ArgfsTer?
XM_017000180.2:c.356_357insGAGATCTA	XP_016855669.1:p.Thr120ArgfsTer?
XR_001736952.2:n.1118_1119insGAGATCTA
NM_000748.3:c.866_867insGAGATCTA MANE Select	NP_000739.1:p.Thr290ArgfsTer?