Canonical Allele Identifier: CA2648170623

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571694-TCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571696_154571697del , CM000663.2:g.154571696_154571697del	GRCh38
NC_000001.10:g.154544172_154544173del , CM000663.1:g.154544172_154544173del	GRCh37
NC_000001.9:g.152810796_152810797del	NCBI36
NG_008027.1:g.8916_8917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.873_874del MANE Select	ENSP00000357461.3:p.Leu292ArgfsTer?
ENST00000636034.1:c.873_874del	ENSP00000489703.1:p.Leu292ArgfsTer?
ENST00000637900.1:c.879_880del	ENSP00000490474.1:p.Leu294ArgfsTer?
ENST00000368476.3:c.873_874del	ENSP00000357461.3:p.Leu292ArgfsTer?
NM_000748.2:c.873_874del	NP_000739.1:p.Leu292ArgfsTer?
XM_017000180.2:c.363_364del	XP_016855669.1:p.Leu122ArgfsTer?
XR_001736952.2:n.1125_1126del
NM_000748.3:c.873_874del MANE Select	NP_000739.1:p.Leu292ArgfsTer?