Canonical Allele Identifier: CA276414654
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs63750531
MyVariant Identifiers: chr16:g.223177_223178del (hg19) chr16:g.173178_173179del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173178_173179del , CM000678.2:g.173178_173179del GRCh38
NC_000016.9:g.223177_223178del , CM000678.1:g.223177_223178del GRCh37
NC_000016.8:g.163177_163178del NCBI36
NG_000006.1:g.34041_34042del
NG_059186.1:g.1528_1529del
NG_059271.1:g.5332_5333del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.149_150del MANE Select ENSP00000251595.6:p.Ser50ThrfsTer7
ENST00000251595.10:c.149_150del ENSP00000251595.6:p.Ser50ThrfsTer7
ENST00000397806.1:c.53_54del ENSP00000380908.1:p.Ser18ThrfsTer7
ENST00000482565.1:n.285_286del
ENST00000484216.1:n.118_119del
NM_000517.4:c.149_150del NP_000508.1:p.Ser50ThrfsTer7
NM_000517.6:c.149_150del MANE Select NP_000508.1:p.Ser50ThrfsTer7
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