Canonical Allele Identifier: CA620304386
Gene: HBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 439110
ClinVar RCV Id: RCV000506995
dbSNP Id: rs1165799259
gnomAD v2: 16-223681-G-A
gnomAD v3: 16-173682-G-A
gnomAD v4: 16-173682-G-A
MyVariant Identifiers: chr16:g.223681G>A (hg19) chr16:g.173682G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173682G>A , CM000678.2:g.173682G>A GRCh38
NC_000016.9:g.223681G>A , CM000678.1:g.223681G>A GRCh37
NC_000016.8:g.163681G>A NCBI36
NG_000006.1:g.34545G>A
NG_059186.1:g.2032G>A
NG_059271.1:g.5836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.*82G>A MANE Select ENSP00000251595.6:n.*82G>A
ENST00000251595.10:c.*82G>A ENSP00000251595.6:n.*82G>A
ENST00000397806.1:c.*82G>A ENSP00000380908.1:n.*82G>A
NM_000517.4:c.*82G>A NP_000508.1:n.*82G>A
NM_000517.6:c.*82G>A MANE Select NP_000508.1:n.*82G>A
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