Canonical Allele Identifier: CA393993081
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172970G>A , CM000678.2:g.172970G>A GRCh38
NC_000016.9:g.222969G>A , CM000678.1:g.222969G>A GRCh37
NC_000016.8:g.162969G>A NCBI36
NG_000006.1:g.33833G>A
NG_059186.1:g.1320G>A
NG_059271.1:g.5124G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.58G>A MANE Select ENSP00000251595.6:p.Ala20Thr
ENST00000251595.10:c.58G>A ENSP00000251595.6:p.Ala20Thr
ENST00000397806.1:c.-2+12G>A ENSP00000380908.1:n.-2+12G>A
ENST00000482565.1:n.77G>A
ENST00000484216.1:n.27G>A
NM_000517.4:c.58G>A NP_000508.1:p.Ala20Thr
NM_000517.6:c.58G>A MANE Select NP_000508.1:p.Ala20Thr