Canonical Allele Identifier: CA2630737372

Gene: HBA2

Linked Data

• gnomAD v4: 16-173217-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173219del , CM000678.2:g.173219del	GRCh38
NC_000016.9:g.223218del , CM000678.1:g.223218del	GRCh37
NC_000016.8:g.163218del	NCBI36
NG_000006.1:g.34082del
NG_059186.1:g.1569del
NG_059271.1:g.5373del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.190del MANE Select	ENSP00000251595.6:p.Ala64ProfsTer4
ENST00000251595.10:c.190del	ENSP00000251595.6:p.Ala64ProfsTer4
ENST00000397806.1:c.94del	ENSP00000380908.1:p.Ala32ProfsTer4
ENST00000482565.1:n.326del
ENST00000484216.1:n.159del
NM_000517.4:c.190del	NP_000508.1:p.Ala64ProfsTer4
NM_000517.6:c.190del MANE Select	NP_000508.1:p.Ala64ProfsTer4