Canonical Allele Identifier: CA492994707
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1274534442
gnomAD v2: 16-223268-G-A
gnomAD v3: 16-173269-G-A
gnomAD v4: 16-173269-G-A
MyVariant Identifiers: chr16:g.223268G>A (hg19) chr16:g.173269G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173269G>A , CM000678.2:g.173269G>A GRCh38
NC_000016.9:g.223268G>A , CM000678.1:g.223268G>A GRCh37
NC_000016.8:g.163268G>A NCBI36
NG_000006.1:g.34132G>A
NG_059186.1:g.1619G>A
NG_059271.1:g.5423G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.240G>A MANE Select ENSP00000251595.6:p.Ala80=
ENST00000251595.10:c.240G>A ENSP00000251595.6:p.Ala80=
ENST00000397806.1:c.144G>A ENSP00000380908.1:p.Ala48=
ENST00000482565.1:n.376G>A
ENST00000484216.1:n.209G>A
NM_000517.4:c.240G>A NP_000508.1:p.Ala80=
NM_000517.6:c.240G>A MANE Select NP_000508.1:p.Ala80=
Search 100 bp 5'
Search 100 bp 3'