Canonical Allele Identifier: CA916315152

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1571026914
• gnomAD v3: 1-154576125-AACT-A
• gnomAD v4: 1-154576125-AACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154576126_154576128del , CM000663.2:g.154576126_154576128del	GRCh38
NC_000001.10:g.154548602_154548604del , CM000663.1:g.154548602_154548604del	GRCh37
NC_000001.9:g.152815226_152815228del	NCBI36
NG_008027.1:g.13346_13348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.*194_*196del MANE Select	ENSP00000357461.3:n.*194_*196del
ENST00000636034.1:c.1505+198_1505+200del	ENSP00000489703.1:n.1505+198_1505+200del
ENST00000637900.1:c.*194_*196del	ENSP00000490474.1:n.*194_*196del
ENST00000368476.3:c.*194_*196del	ENSP00000357461.3:n.*194_*196del
NM_000748.2:c.*194_*196del	NP_000739.1:n.*194_*196del
XM_017000180.2:c.*194_*196del	XP_016855669.1:n.*194_*196del
XR_001736952.2:n.1955_1957del
NM_000748.3:c.*194_*196del MANE Select	NP_000739.1:n.*194_*196del