Canonical Allele Identifier: CA492784796
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223310G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173311G>A , CM000678.2:g.173311G>A GRCh38
NC_000016.9:g.223310G>A , CM000678.1:g.223310G>A GRCh37
NC_000016.8:g.163310G>A NCBI36
NG_000006.1:g.34174G>A
NG_059186.1:g.1661G>A
NG_059271.1:g.5465G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.282G>A MANE Select ENSP00000251595.6:p.Val94=
ENST00000251595.10:c.282G>A ENSP00000251595.6:p.Val94=
ENST00000397806.1:c.186G>A ENSP00000380908.1:p.Val62=
ENST00000482565.1:n.418G>A
ENST00000484216.1:n.251G>A
NM_000517.4:c.282G>A NP_000508.1:p.Val94=
NM_000517.6:c.282G>A MANE Select NP_000508.1:p.Val94=