Canonical Allele Identifier: CA2630737434

Gene: HBA2

Linked Data

• gnomAD v4: 16-173238-C-CCGTGGCGCACGTGGACGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173240_173257dup , CM000678.2:g.173240_173257dup	GRCh38
NC_000016.9:g.223239_223256dup , CM000678.1:g.223239_223256dup	GRCh37
NC_000016.8:g.163239_163256dup	NCBI36
NG_000006.1:g.34103_34120dup
NG_059186.1:g.1590_1607dup
NG_059271.1:g.5394_5411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.211_228dup MANE Select	ENSP00000251595.6:p.Asp76_Met77insValAlaHisValAspAsp
ENST00000251595.10:c.211_228dup	ENSP00000251595.6:p.Asp76_Met77insValAlaHisValAspAsp
ENST00000397806.1:c.115_132dup	ENSP00000380908.1:p.Asp44_Met45insValAlaHisValAspAsp
ENST00000482565.1:n.347_364dup
ENST00000484216.1:n.180_197dup
NM_000517.4:c.211_228dup	NP_000508.1:p.Asp76_Met77insValAlaHisValAspAsp
NM_000517.6:c.211_228dup MANE Select	NP_000508.1:p.Asp76_Met77insValAlaHisValAspAsp