Canonical Allele Identifier: CA492785453
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223554G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173555G>A , CM000678.2:g.173555G>A GRCh38
NC_000016.9:g.223554G>A , CM000678.1:g.223554G>A GRCh37
NC_000016.8:g.163554G>A NCBI36
NG_000006.1:g.34418G>A
NG_059186.1:g.1905G>A
NG_059271.1:g.5709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.384G>A MANE Select ENSP00000251595.6:p.Lys128=
ENST00000251595.10:c.384G>A ENSP00000251595.6:p.Lys128=
ENST00000397806.1:c.288G>A ENSP00000380908.1:p.Lys96=
ENST00000482565.1:n.520G>A
NM_000517.4:c.384G>A NP_000508.1:p.Lys128=
NM_000517.6:c.384G>A MANE Select NP_000508.1:p.Lys128=