Canonical Allele Identifier: CA276414679

Gene: HBA2

Linked Data

• dbSNP Id: rs281860627
• gnomAD v4: 16-173182-C-A
• MyVariant Identifiers: chr16:g.223181C>A (hg19) ; chr16:g.173182C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173182C>A , CM000678.2:g.173182C>A	GRCh38
NC_000016.9:g.223181C>A , CM000678.1:g.223181C>A	GRCh37
NC_000016.8:g.163181C>A	NCBI36
NG_000006.1:g.34045C>A
NG_059186.1:g.1532C>A
NG_059271.1:g.5336C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.153C>A MANE Select	ENSP00000251595.6:p.His51Gln
ENST00000251595.10:c.153C>A	ENSP00000251595.6:p.His51Gln
ENST00000397806.1:c.57C>A	ENSP00000380908.1:p.His19Gln
ENST00000482565.1:n.289C>A
ENST00000484216.1:n.122C>A
NM_000517.4:c.153C>A	NP_000508.1:p.His51Gln
NM_000517.6:c.153C>A MANE Select	NP_000508.1:p.His51Gln