Canonical Allele Identifier: CA2630737781

Gene: HBA2

Linked Data

• gnomAD v4: 16-173393-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173395del , CM000678.2:g.173395del	GRCh38
NC_000016.9:g.223394del , CM000678.1:g.223394del	GRCh37
NC_000016.8:g.163394del	NCBI36
NG_000006.1:g.34258del
NG_059186.1:g.1745del
NG_059271.1:g.5549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000251595.11:c.300+66del MANE Select	ENSP00000251595.6:n.300+66del
ENST00000251595.10:c.300+66del	ENSP00000251595.6:n.300+66del
ENST00000397806.1:c.204+66del	ENSP00000380908.1:n.204+66del
ENST00000482565.1:n.436+66del
ENST00000484216.1:n.335del
NM_000517.4:c.300+66del	NP_000508.1:n.300+66del
NM_000517.6:c.300+66del MANE Select	NP_000508.1:n.300+66del