Canonical Allele Identifier: CA7770171
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs779961709
ExAC: 16:223467 AC / A
MyVariant Identifiers: chr16:g.223468del (hg19) chr16:g.173469del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173469del , CM000678.2:g.173469del GRCh38
NC_000016.9:g.223468del , CM000678.1:g.223468del GRCh37
NC_000016.8:g.163468del NCBI36
NG_000006.1:g.34332del
NG_059186.1:g.1819del
NG_059271.1:g.5623del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.301-3del MANE Select ENSP00000251595.6:n.301-3del
ENST00000251595.10:c.301-3del ENSP00000251595.6:n.301-3del
ENST00000397806.1:c.205-3del ENSP00000380908.1:n.205-3del
ENST00000482565.1:n.437-3del
NM_000517.4:c.301-3del NP_000508.1:n.301-3del
NM_000517.6:c.301-3del MANE Select NP_000508.1:n.301-3del
Search 100 bp 5'
Search 100 bp 3'