Canonical Allele Identifier: CA526666189

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1199983054
• gnomAD v2: 1-154544164-C-CGA
• gnomAD v4: 1-154571688-C-CGA
• MyVariant Identifiers: chr1:g.154544164_154544165insGA (hg19) ; chr1:g.154571688_154571689insGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571688_154571689insGA , CM000663.2:g.154571688_154571689insGA	GRCh38
NC_000001.10:g.154544164_154544165insGA , CM000663.1:g.154544164_154544165insGA	GRCh37
NC_000001.9:g.152810788_152810789insGA	NCBI36
NG_008027.1:g.8908_8909insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.865_866insGA MANE Select	ENSP00000357461.3:p.Pro289ArgfsTer?
ENST00000636034.1:c.865_866insGA	ENSP00000489703.1:p.Pro289ArgfsTer?
ENST00000637900.1:c.871_872insGA	ENSP00000490474.1:p.Pro291ArgfsTer?
ENST00000368476.3:c.865_866insGA	ENSP00000357461.3:p.Pro289ArgfsTer?
NM_000748.2:c.865_866insGA	NP_000739.1:p.Pro289ArgfsTer?
XM_017000180.2:c.355_356insGA	XP_016855669.1:p.Pro119ArgfsTer?
XR_001736952.2:n.1117_1118insGA
NM_000748.3:c.865_866insGA MANE Select	NP_000739.1:p.Pro289ArgfsTer?