Canonical Allele Identifier: CA125662
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15692
ClinVar RCV Id: RCV000016983 RCV000985719
dbSNP Id: rs63750678
gnomAD v4: 16-172913-AT-A
MyVariant Identifiers: chr16:g.222913del (hg19) chr16:g.172914del (hg38)
PubMed: PMID:9322079 PMID:16116675
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.172914del , CM000678.2:g.172914del GRCh38
NC_000016.9:g.222913del , CM000678.1:g.222913del GRCh37
NC_000016.8:g.162913del NCBI36
NG_000006.1:g.33777del
NG_059186.1:g.1264del
NG_059271.1:g.5068del

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.2del MANE Select ENSP00000251595.6:p.Met1ArgfsTer?
ENST00000251595.10:c.2del ENSP00000251595.6:p.Met1ArgfsTer?
ENST00000397806.1:c.-46del ENSP00000380908.1:n.-46del
ENST00000482565.1:n.21del
NM_000517.4:c.2del NP_000508.1:p.Met1ArgfsTer?
NM_000517.6:c.2del MANE Select NP_000508.1:p.Met1ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'