Canonical Allele Identifier: CA526666195

Gene: CHRNB2

Linked Data

• gnomAD v2: 1-154544172-C-CGAGAT
• gnomAD v4: 1-154571696-C-CGAGAT
• MyVariant Identifiers: chr1:g.154544172_154544173insGAGAT (hg19) ; chr1:g.154571696_154571697insGAGAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571696_154571697insGAGAT , CM000663.2:g.154571696_154571697insGAGAT	GRCh38
NC_000001.10:g.154544172_154544173insGAGAT , CM000663.1:g.154544172_154544173insGAGAT	GRCh37
NC_000001.9:g.152810796_152810797insGAGAT	NCBI36
NG_008027.1:g.8916_8917insGAGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.873_874insGAGAT MANE Select	ENSP00000357461.3:p.Leu292GlufsTer?
ENST00000636034.1:c.873_874insGAGAT	ENSP00000489703.1:p.Leu292GlufsTer?
ENST00000637900.1:c.879_880insGAGAT	ENSP00000490474.1:p.Leu294GlufsTer?
ENST00000368476.3:c.873_874insGAGAT	ENSP00000357461.3:p.Leu292GlufsTer?
NM_000748.2:c.873_874insGAGAT	NP_000739.1:p.Leu292GlufsTer?
XM_017000180.2:c.363_364insGAGAT	XP_016855669.1:p.Leu122GlufsTer?
XR_001736952.2:n.1125_1126insGAGAT
NM_000748.3:c.873_874insGAGAT MANE Select	NP_000739.1:p.Leu292GlufsTer?