Canonical Allele Identifier: CA973582662

Gene: HBA2

Linked Data

• dbSNP Id: rs1902064908
• gnomAD v3: 16-173598-TAAGC-T
• gnomAD v4: 16-173598-TAAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173599_173602del , CM000678.2:g.173599_173602del	GRCh38
NC_000016.9:g.223598_223601del , CM000678.1:g.223598_223601del	GRCh37
NC_000016.8:g.163598_163601del	NCBI36
NG_000006.1:g.34462_34465del
NG_059186.1:g.1949_1952del
NG_059271.1:g.5753_5756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.428_*2del MANE Select	ENSP00000251595.6:n.[c.428_*2del;Ter143LeuextTer5]
ENST00000251595.10:c.428_*2del	ENSP00000251595.6:n.[c.428_*2del;Ter143LeuextTer5]
ENST00000397806.1:c.332_*2del	ENSP00000380908.1:n.[c.332_*2del;Ter111LeuextTer5]
ENST00000482565.1:n.564_567del
NM_000517.4:c.428_*2del	NP_000508.1:n.[c.428_*2del;Ter143LeuextTer5]
NM_000517.6:c.428_*2del MANE Select	NP_000508.1:n.[c.428_*2del;Ter143LeuextTer5]