Canonical Allele Identifier: CA2630736964
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-172955-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172959del , CM000678.2:g.172959del GRCh38
NC_000016.9:g.222958del , CM000678.1:g.222958del GRCh37
NC_000016.8:g.162958del NCBI36
NG_000006.1:g.33822del
NG_059186.1:g.1309del
NG_059271.1:g.5113del

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.47del MANE Select ENSP00000251595.6:p.Gly16ValfsTer?
ENST00000251595.10:c.47del ENSP00000251595.6:p.Gly16ValfsTer?
ENST00000397806.1:c.-2+1del
ENST00000482565.1:n.66del
ENST00000484216.1:n.16del
NM_000517.4:c.47del NP_000508.1:p.Gly16ValfsTer?
NM_000517.6:c.47del MANE Select NP_000508.1:p.Gly16ValfsTer?
Search 100 bp 5'
Search 100 bp 3'