Canonical Allele Identifier: CA597436263

Gene: HBG2

Linked Data

• dbSNP Id: rs1320644376
• gnomAD v2: 11-5275770-ACAGT-A
• gnomAD v4: 11-5254540-ACAGT-A
• MyVariant Identifiers: chr11:g.5275771_5275774del (hg19) ; chr11:g.5254541_5254544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254544_5254547del , CM000673.2:g.5254544_5254547del	GRCh38
NC_000011.9:g.5275774_5275777del , CM000673.1:g.5275774_5275777del	GRCh37
NC_000011.8:g.5232350_5232353del	NCBI36
NG_000007.3:g.43072_43075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.93-30_93-27del MANE Select	ENSP00000338082.4:n.93-30_93-27del
ENST00000380252.6:c.-73-30_-73-27del	ENSP00000369602.2:n.-73-30_-73-27del
ENST00000380259.7:c.1639-30_1639-27del	ENSP00000369609.3:n.1639-30_1639-27del
ENST00000642908.1:c.93-30_93-27del	ENSP00000495346.1:n.93-30_93-27del
ENST00000647543.1:c.93-30_93-27del	ENSP00000496470.1:n.93-30_93-27del
ENST00000336906.4:c.93-30_93-27del	ENSP00000338082.4:n.93-30_93-27del
ENST00000380252.5:c.63-30_63-27del	ENSP00000369602.1:n.63-30_63-27del
ENST00000380259.6:c.93-30_93-27del	ENSP00000369609.2:n.93-30_93-27del
ENST00000444587.1:c.55-30_55-27del	ENSP00000488218.1:n.55-30_55-27del
ENST00000620888.4:c.93-30_93-27del	ENSP00000479637.1:n.93-30_93-27del
ENST00000624109.1:c.264+28_264+31del	ENSP00000485458.1:n.264+28_264+31del
NM_000184.2:c.93-30_93-27del	NP_000175.1:n.93-30_93-27del
NM_000184.3:c.93-30_93-27del MANE Select	NP_000175.1:n.93-30_93-27del