Canonical Allele Identifier: CA2612152482

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254506-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254508del , CM000673.2:g.5254508del	GRCh38
NC_000011.9:g.5275738del , CM000673.1:g.5275738del	GRCh37
NC_000011.8:g.5232314del	NCBI36
NG_000007.3:g.43109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.100del MANE Select	ENSP00000338082.4:p.Val34LeufsTer?
ENST00000380252.6:c.-66del	ENSP00000369602.2:n.-66del
ENST00000380259.7:c.1646del	ENSP00000369609.3:n.1646del
ENST00000642908.1:c.100del	ENSP00000495346.1:p.Val34LeufsTer?
ENST00000647543.1:c.100del	ENSP00000496470.1:p.Val34LeufsTer?
ENST00000336906.4:c.100del	ENSP00000338082.4:p.Val34LeufsTer?
ENST00000380252.5:c.70del	ENSP00000369602.1:p.Val24LeufsTer?
ENST00000380259.6:c.100del	ENSP00000369609.2:p.Val34LeufsTer?
ENST00000444587.1:c.62del	ENSP00000488218.1:p.Gly21ValfsTer?
ENST00000620888.4:c.100del	ENSP00000479637.1:p.Val34LeufsTer?
ENST00000624109.1:c.256del	ENSP00000485458.1:p.Gln86ArgfsTer?
NM_000184.2:c.100del	NP_000175.1:p.Val34LeufsTer?
NM_000184.3:c.100del MANE Select	NP_000175.1:p.Val34LeufsTer?