Canonical Allele Identifier: CA913190955
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 635430
ClinVar RCV Id: RCV000786879
dbSNP Id: rs1596570041
gnomAD v4: 16-173295-CGCACAAGCTTCGG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173297_173309del , CM000678.2:g.173297_173309del GRCh38
NC_000016.9:g.223296_223308del , CM000678.1:g.223296_223308del GRCh37
NC_000016.8:g.163296_163308del NCBI36
NG_000006.1:g.34160_34172del
NG_059186.1:g.1647_1659del
NG_059271.1:g.5451_5463del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.268_280del MANE Select ENSP00000251595.6:p.His90TrpfsTer9
ENST00000251595.10:c.268_280del ENSP00000251595.6:p.His90TrpfsTer9
ENST00000397806.1:c.172_184del ENSP00000380908.1:p.His58TrpfsTer9
ENST00000482565.1:n.404_416del
ENST00000484216.1:n.237_249del
NM_000517.4:c.268_280del NP_000508.1:p.His90TrpfsTer9
NM_000517.6:c.268_280del MANE Select NP_000508.1:p.His90TrpfsTer9
Search 100 bp 5'
Search 100 bp 3'