Canonical Allele Identifier: CA492785495
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223563T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173564T>A , CM000678.2:g.173564T>A GRCh38
NC_000016.9:g.223563T>A , CM000678.1:g.223563T>A GRCh37
NC_000016.8:g.163563T>A NCBI36
NG_000006.1:g.34427T>A
NG_059186.1:g.1914T>A
NG_059271.1:g.5718T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.393T>A MANE Select ENSP00000251595.6:p.Ala131=
ENST00000251595.10:c.393T>A ENSP00000251595.6:p.Ala131=
ENST00000397806.1:c.297T>A ENSP00000380908.1:p.Ala99=
ENST00000482565.1:n.529T>A
NM_000517.4:c.393T>A NP_000508.1:p.Ala131=
NM_000517.6:c.393T>A MANE Select NP_000508.1:p.Ala131=