Canonical Allele Identifier: CA526408559

Gene: CHRNB2

Linked Data

• dbSNP Id: rs1405038842
• gnomAD v2: 1-154548655-TGAG-T
• gnomAD v3: 1-154576179-TGAG-T
• gnomAD v4: 1-154576179-TGAG-T
• MyVariant Identifiers: chr1:g.154548656_154548658del (hg19) ; chr1:g.154576180_154576182del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154576184_154576186del , CM000663.2:g.154576184_154576186del	GRCh38
NC_000001.10:g.154548660_154548662del , CM000663.1:g.154548660_154548662del	GRCh37
NC_000001.9:g.152815284_152815286del	NCBI36
NG_008027.1:g.13404_13406del

Transcript Alleles

HGVS	Amino-acid change
ENST00000368476.4:c.*252_*254del MANE Select	ENSP00000357461.3:n.*252_*254del
ENST00000636034.1:c.1505+256_1505+258del	ENSP00000489703.1:n.1505+256_1505+258del
ENST00000637900.1:c.*252_*254del	ENSP00000490474.1:n.*252_*254del
ENST00000368476.3:c.*252_*254del	ENSP00000357461.3:n.*252_*254del
NM_000748.2:c.*252_*254del	NP_000739.1:n.*252_*254del
XM_017000180.2:c.*252_*254del	XP_016855669.1:n.*252_*254del
XR_001736952.2:n.2013_2015del
NM_000748.3:c.*252_*254del MANE Select	NP_000739.1:n.*252_*254del