Canonical Allele Identifier: CA10603494

Gene: HBA2

Linked Data

• ClinVar Variation Id: 280127
• ClinVar RCV Id: RCV000341094 ; RCV001275677
• dbSNP Id: rs886041399
• gnomAD v2: 16-222970-CG-C
• gnomAD v3: 16-172971-CG-C
• gnomAD v4: 16-172971-CG-C
• MyVariant Identifiers: chr16:g.222971del (hg19) ; chr16:g.172972del (hg38)
• PubMed: PMID:14508795 ; PMID:16798638 ; PMID:22943743

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.172972del , CM000678.2:g.172972del	GRCh38
NC_000016.9:g.222971del , CM000678.1:g.222971del	GRCh37
NC_000016.8:g.162971del	NCBI36
NG_000006.1:g.33835del
NG_059186.1:g.1322del
NG_059271.1:g.5126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251595.11:c.60del MANE Select	ENSP00000251595.6:p.His21ThrfsTer29
ENST00000251595.10:c.60del	ENSP00000251595.6:p.His21ThrfsTer29
ENST00000397806.1:c.-2+14del	ENSP00000380908.1:n.-2+14del
ENST00000482565.1:n.79del
ENST00000484216.1:n.29del
NM_000517.4:c.60del	NP_000508.1:p.His21ThrfsTer29
NM_000517.6:c.60del MANE Select	NP_000508.1:p.His21ThrfsTer29