Canonical Allele Identifier: CA526666186

Gene: CHRNB2

Linked Data

• gnomAD v2: 1-154544160-GCCTC-G
• gnomAD v4: 1-154571684-GCCTC-G
• MyVariant Identifiers: chr1:g.154544161_154544164del (hg19) ; chr1:g.154571685_154571688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571687_154571690del , CM000663.2:g.154571687_154571690del	GRCh38
NC_000001.10:g.154544163_154544166del , CM000663.1:g.154544163_154544166del	GRCh37
NC_000001.9:g.152810787_152810790del	NCBI36
NG_008027.1:g.8907_8910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.864_867del MANE Select	ENSP00000357461.3:p.Thr290ProfsTer?
ENST00000636034.1:c.864_867del	ENSP00000489703.1:p.Thr290ProfsTer?
ENST00000637900.1:c.870_873del	ENSP00000490474.1:p.Thr292ProfsTer?
ENST00000368476.3:c.864_867del	ENSP00000357461.3:p.Thr290ProfsTer?
NM_000748.2:c.864_867del	NP_000739.1:p.Thr290ProfsTer?
XM_017000180.2:c.354_357del	XP_016855669.1:p.Thr120ProfsTer?
XR_001736952.2:n.1116_1119del
NM_000748.3:c.864_867del MANE Select	NP_000739.1:p.Thr290ProfsTer?