Canonical Allele Identifier: CA2630738093

Gene: HBA2

Linked Data

• gnomAD v4: 16-173652-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173652C>G , CM000678.2:g.173652C>G	GRCh38
NC_000016.9:g.223651C>G , CM000678.1:g.223651C>G	GRCh37
NC_000016.8:g.163651C>G	NCBI36
NG_000006.1:g.34515C>G
NG_059186.1:g.2002C>G
NG_059271.1:g.5806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.*52C>G MANE Select	ENSP00000251595.6:n.*52C>G
ENST00000251595.10:c.*52C>G	ENSP00000251595.6:n.*52C>G
ENST00000397806.1:c.*52C>G	ENSP00000380908.1:n.*52C>G
ENST00000482565.1:n.617C>G
NM_000517.4:c.*52C>G	NP_000508.1:n.*52C>G
NM_000517.6:c.*52C>G MANE Select	NP_000508.1:n.*52C>G