Canonical Allele Identifier: CA526666194

Gene: CHRNB2

Linked Data

• gnomAD v2: 1-154544172-C-CA
• gnomAD v4: 1-154571696-C-CA
• MyVariant Identifiers: chr1:g.154544172_154544173insA (hg19) ; chr1:g.154571696_154571697insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571696_154571697insA , CM000663.2:g.154571696_154571697insA	GRCh38
NC_000001.10:g.154544172_154544173insA , CM000663.1:g.154544172_154544173insA	GRCh37
NC_000001.9:g.152810796_152810797insA	NCBI36
NG_008027.1:g.8916_8917insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.873_874insA MANE Select	ENSP00000357461.3:p.Leu292ThrfsTer?
ENST00000636034.1:c.873_874insA	ENSP00000489703.1:p.Leu292ThrfsTer?
ENST00000637900.1:c.879_880insA	ENSP00000490474.1:p.Leu294ThrfsTer?
ENST00000368476.3:c.873_874insA	ENSP00000357461.3:p.Leu292ThrfsTer?
NM_000748.2:c.873_874insA	NP_000739.1:p.Leu292ThrfsTer?
XM_017000180.2:c.363_364insA	XP_016855669.1:p.Leu122ThrfsTer?
XR_001736952.2:n.1125_1126insA
NM_000748.3:c.873_874insA MANE Select	NP_000739.1:p.Leu292ThrfsTer?