Canonical Allele Identifier: CA2695221214
Gene: HBA2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173160del , CM000678.2:g.173160del GRCh38
NC_000016.9:g.223159del , CM000678.1:g.223159del GRCh37
NC_000016.8:g.163159del NCBI36
NG_000006.1:g.34023del
NG_059186.1:g.1510del
NG_059271.1:g.5314del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.131del MANE Select ENSP00000251595.6:p.Phe44SerfsTer6
ENST00000251595.10:c.131del ENSP00000251595.6:p.Phe44SerfsTer6
ENST00000397806.1:c.35del ENSP00000380908.1:p.Phe12SerfsTer6
ENST00000482565.1:n.267del
ENST00000484216.1:n.100del
NM_000517.4:c.131del NP_000508.1:p.Phe44SerfsTer6
NM_000517.6:c.131del MANE Select NP_000508.1:p.Phe44SerfsTer6
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