Canonical Allele Identifier: CA492994256
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223001G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173002G>A , CM000678.2:g.173002G>A GRCh38
NC_000016.9:g.223001G>A , CM000678.1:g.223001G>A GRCh37
NC_000016.8:g.163001G>A NCBI36
NG_000006.1:g.33865G>A
NG_059186.1:g.1352G>A
NG_059271.1:g.5156G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.90G>A MANE Select ENSP00000251595.6:p.Leu30=
ENST00000251595.10:c.90G>A ENSP00000251595.6:p.Leu30=
ENST00000397806.1:c.-2+44G>A ENSP00000380908.1:n.-2+44G>A
ENST00000482565.1:n.109G>A
ENST00000484216.1:n.59G>A
NM_000517.4:c.90G>A NP_000508.1:p.Leu30=
NM_000517.6:c.90G>A MANE Select NP_000508.1:p.Leu30=