Canonical Allele Identifier: CA718603450
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1488506775
MyVariant Identifiers: chr16:g.223283del (hg19) chr16:g.173284del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173284del , CM000678.2:g.173284del GRCh38
NC_000016.9:g.223283del , CM000678.1:g.223283del GRCh37
NC_000016.8:g.163283del NCBI36
NG_000006.1:g.34147del
NG_059186.1:g.1634del
NG_059271.1:g.5438del

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.255del MANE Select ENSP00000251595.6:p.Ser85ArgfsTer18
ENST00000251595.10:c.255del ENSP00000251595.6:p.Ser85ArgfsTer18
ENST00000397806.1:c.159del ENSP00000380908.1:p.Ser53ArgfsTer18
ENST00000482565.1:n.391del
ENST00000484216.1:n.224del
NM_000517.4:c.255del NP_000508.1:p.Ser85ArgfsTer18
NM_000517.6:c.255del MANE Select NP_000508.1:p.Ser85ArgfsTer18
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