Canonical Allele Identifier: CA2630737442

Gene: HBA2

Linked Data

• gnomAD v4: 16-173244-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173245dup , CM000678.2:g.173245dup	GRCh38
NC_000016.9:g.223244dup , CM000678.1:g.223244dup	GRCh37
NC_000016.8:g.163244dup	NCBI36
NG_000006.1:g.34108dup
NG_059186.1:g.1595dup
NG_059271.1:g.5399dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.216dup MANE Select	ENSP00000251595.6:p.His73AlafsTer?
ENST00000251595.10:c.216dup	ENSP00000251595.6:p.His73AlafsTer?
ENST00000397806.1:c.120dup	ENSP00000380908.1:p.His41AlafsTer?
ENST00000482565.1:n.352dup
ENST00000484216.1:n.185dup
NM_000517.4:c.216dup	NP_000508.1:p.His73AlafsTer?
NM_000517.6:c.216dup MANE Select	NP_000508.1:p.His73AlafsTer?