Canonical Allele Identifier: CA393994290
Gene: HBA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173322A>T , CM000678.2:g.173322A>T GRCh38
NC_000016.9:g.223321A>T , CM000678.1:g.223321A>T GRCh37
NC_000016.8:g.163321A>T NCBI36
NG_000006.1:g.34185A>T
NG_059186.1:g.1672A>T
NG_059271.1:g.5476A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.293A>T MANE Select ENSP00000251595.6:p.Asn98Ile
ENST00000251595.10:c.293A>T ENSP00000251595.6:p.Asn98Ile
ENST00000397806.1:c.197A>T ENSP00000380908.1:p.Asn66Ile
ENST00000482565.1:n.429A>T
ENST00000484216.1:n.262A>T
NM_000517.4:c.293A>T NP_000508.1:p.Asn98Ile
NM_000517.6:c.293A>T MANE Select NP_000508.1:p.Asn98Ile