Canonical Allele Identifier: CA526666187

Gene: CHRNB2

Linked Data

• gnomAD v2: 1-154544160-GCCT-G
• gnomAD v4: 1-154571684-GCCT-G
• MyVariant Identifiers: chr1:g.154544162_154544164del (hg19) ; chr1:g.154571686_154571688del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154571687_154571689del , CM000663.2:g.154571687_154571689del	GRCh38
NC_000001.10:g.154544163_154544165del , CM000663.1:g.154544163_154544165del	GRCh37
NC_000001.9:g.152810787_152810789del	NCBI36
NG_008027.1:g.8907_8909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368476.4:c.864_866del MANE Select	ENSP00000357461.3:p.Pro289del
ENST00000636034.1:c.864_866del	ENSP00000489703.1:p.Pro289del
ENST00000637900.1:c.870_872del	ENSP00000490474.1:p.Pro291del
ENST00000368476.3:c.864_866del	ENSP00000357461.3:p.Pro289del
NM_000748.2:c.864_866del	NP_000739.1:p.Pro289del
XM_017000180.2:c.354_356del	XP_016855669.1:p.Pro119del
XR_001736952.2:n.1116_1118del
NM_000748.3:c.864_866del MANE Select	NP_000739.1:p.Pro289del