Canonical Allele Identifier: CA889600425

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1310995497
• gnomAD v3: 1-154571749-CCTT-C
• gnomAD v4: 1-154571749-CCTT-C
• MyVariant Identifiers: chr1:g.154544226_154544228del (hg19) ; chr1:g.154571750_154571752del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571752_154571754del , CM000663.2:g.154571752_154571754del	GRCh38
NC_000001.10:g.154544228_154544230del , CM000663.1:g.154544228_154544230del	GRCh37
NC_000001.9:g.152810852_152810854del	NCBI36
NG_008027.1:g.8972_8974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.929_931del MANE Select	ENSP00000357461.3:p.Phe310del
ENST00000636034.1:c.929_931del	ENSP00000489703.1:p.Phe310del
ENST00000637900.1:c.935_937del	ENSP00000490474.1:p.Phe312del
ENST00000368476.3:c.929_931del	ENSP00000357461.3:p.Phe310del
NM_000748.2:c.929_931del	NP_000739.1:p.Phe310del
XM_017000180.2:c.419_421del	XP_016855669.1:p.Phe140del
XR_001736952.2:n.1181_1183del
NM_000748.3:c.929_931del MANE Select	NP_000739.1:p.Phe310del