Canonical Allele Identifier: CA2648170629

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571695-CCCTCGACGTGCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571697_154571709del , CM000663.2:g.154571697_154571709del	GRCh38
NC_000001.10:g.154544173_154544185del , CM000663.1:g.154544173_154544185del	GRCh37
NC_000001.9:g.152810797_152810809del	NCBI36
NG_008027.1:g.8917_8929del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.874_886del MANE Select	ENSP00000357461.3:p.Leu292SerfsTer?
ENST00000636034.1:c.874_886del	ENSP00000489703.1:p.Leu292SerfsTer?
ENST00000637900.1:c.880_892del	ENSP00000490474.1:p.Leu294SerfsTer?
ENST00000368476.3:c.874_886del	ENSP00000357461.3:p.Leu292SerfsTer?
NM_000748.2:c.874_886del	NP_000739.1:p.Leu292SerfsTer?
XM_017000180.2:c.364_376del	XP_016855669.1:p.Leu122SerfsTer?
XR_001736952.2:n.1126_1138del
NM_000748.3:c.874_886del MANE Select	NP_000739.1:p.Leu292SerfsTer?