Canonical Allele Identifier: CA492994605

Gene: HBA2

Linked Data

• MyVariant Identifiers: chr16:g.223196T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.173197T>A , CM000678.2:g.173197T>A	GRCh38
NC_000016.9:g.223196T>A , CM000678.1:g.223196T>A	GRCh37
NC_000016.8:g.163196T>A	NCBI36
NG_000006.1:g.34060T>A
NG_059186.1:g.1547T>A
NG_059271.1:g.5351T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.168T>A MANE Select	ENSP00000251595.6:p.Val56=
ENST00000251595.10:c.168T>A	ENSP00000251595.6:p.Val56=
ENST00000397806.1:c.72T>A	ENSP00000380908.1:p.Val24=
ENST00000482565.1:n.304T>A
ENST00000484216.1:n.137T>A
NM_000517.4:c.168T>A	NP_000508.1:p.Val56=
NM_000517.6:c.168T>A MANE Select	NP_000508.1:p.Val56=