Canonical Allele Identifier: CA526666191

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1410957290
• gnomAD v2: 1-154544169-C-CGAGA
• gnomAD v4: 1-154571693-C-CGAGA
• MyVariant Identifiers: chr1:g.154544169_154544170insGAGA (hg19) ; chr1:g.154571693_154571694insGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571693_154571694insGAGA , CM000663.2:g.154571693_154571694insGAGA	GRCh38
NC_000001.10:g.154544169_154544170insGAGA , CM000663.1:g.154544169_154544170insGAGA	GRCh37
NC_000001.9:g.152810793_152810794insGAGA	NCBI36
NG_008027.1:g.8913_8914insGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.870_871insGAGA MANE Select	ENSP00000357461.3:p.Ser291GlufsTer?
ENST00000636034.1:c.870_871insGAGA	ENSP00000489703.1:p.Ser291GlufsTer?
ENST00000637900.1:c.876_877insGAGA	ENSP00000490474.1:p.Ser293GlufsTer?
ENST00000368476.3:c.870_871insGAGA	ENSP00000357461.3:p.Ser291GlufsTer?
NM_000748.2:c.870_871insGAGA	NP_000739.1:p.Ser291GlufsTer?
XM_017000180.2:c.360_361insGAGA	XP_016855669.1:p.Ser121GlufsTer?
XR_001736952.2:n.1122_1123insGAGA
NM_000748.3:c.870_871insGAGA MANE Select	NP_000739.1:p.Ser291GlufsTer?