Canonical Allele Identifier: CA2612152145

Gene: HBG2

Linked Data

• gnomAD v4: 11-5254304-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.5254306del , CM000673.2:g.5254306del	GRCh38
NC_000011.9:g.5275536del , CM000673.1:g.5275536del	GRCh37
NC_000011.8:g.5232112del	NCBI36
NG_000007.3:g.43311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336906.6:c.302del MANE Select	ENSP00000338082.4:p.Pro101LeufsTer12
ENST00000380252.6:c.137del	ENSP00000369602.2:p.Pro46LeufsTer12
ENST00000642908.1:c.302del	ENSP00000495346.1:p.Pro101LeufsTer12
ENST00000647543.1:c.302del	ENSP00000496470.1:p.Pro101LeufsTer12
ENST00000336906.4:c.302del	ENSP00000338082.4:p.Pro101LeufsTer12
ENST00000380252.5:c.272del	ENSP00000369602.1:p.Pro91LeufsTer12
ENST00000380259.6:c.302del	ENSP00000369609.2:p.Pro101LeufsTer12
ENST00000444587.1:c.*171del	ENSP00000488218.1:n.*171del
ENST00000620888.4:c.302del	ENSP00000479637.1:p.Pro101LeufsTer12
ENST00000624109.1:c.54del	ENSP00000485458.1:p.Ile19SerfsTer?
NM_000184.2:c.302del	NP_000175.1:p.Pro101LeufsTer12
NM_000184.3:c.302del MANE Select	NP_000175.1:p.Pro101LeufsTer12