Canonical Allele Identifier: CA2648170635

Gene: CHRNB2

Linked Data

• gnomAD v4: 1-154571698-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571699del , CM000663.2:g.154571699del	GRCh38
NC_000001.10:g.154544175del , CM000663.1:g.154544175del	GRCh37
NC_000001.9:g.152810799del	NCBI36
NG_008027.1:g.8919del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.876del MANE Select	ENSP00000357461.3:p.Asp293ThrfsTer?
ENST00000636034.1:c.876del	ENSP00000489703.1:p.Asp293ThrfsTer?
ENST00000637900.1:c.882del	ENSP00000490474.1:p.Asp295ThrfsTer?
ENST00000368476.3:c.876del	ENSP00000357461.3:p.Asp293ThrfsTer?
NM_000748.2:c.876del	NP_000739.1:p.Asp293ThrfsTer?
XM_017000180.2:c.366del	XP_016855669.1:p.Asp123ThrfsTer?
XR_001736952.2:n.1128del
NM_000748.3:c.876del MANE Select	NP_000739.1:p.Asp293ThrfsTer?