Canonical Allele Identifier: CA620304239
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 995798
ClinVar RCV Id: RCV001289990 RCV001810721
dbSNP Id: rs1445188229
gnomAD v2: 16-223010-AGGCTCCCTCCCCTGCTCCGACCCG-A
gnomAD v3: 16-173011-AGGCTCCCTCCCCTGCTCCGACCCG-A
gnomAD v4: 16-173011-AGGCTCCCTCCCCTGCTCCGACCCG-A
MyVariant Identifiers: chr16:g.223011_223034del (hg19) chr16:g.173012_173035del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173018_173041del , CM000678.2:g.173018_173041del GRCh38
NC_000016.9:g.223017_223040del , CM000678.1:g.223017_223040del GRCh37
NC_000016.8:g.163017_163040del NCBI36
NG_000006.1:g.33881_33904del
NG_059186.1:g.1368_1391del
NG_059271.1:g.5172_5195del

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.95+11_95+34del MANE Select ENSP00000251595.6:n.95+11_95+34del
ENST00000251595.10:c.95+11_95+34del ENSP00000251595.6:n.95+11_95+34del
ENST00000397806.1:c.-2+60_-1-84del ENSP00000380908.1:n.-2+60_-1-84del
ENST00000482565.1:n.125_148del
ENST00000484216.1:n.64+11_64+34del
NM_000517.4:c.95+11_95+34del NP_000508.1:n.95+11_95+34del
NM_000517.6:c.95+11_95+34del MANE Select NP_000508.1:n.95+11_95+34del
Search 100 bp 5'
Search 100 bp 3'