Canonical Allele Identifier: CA492994757
Gene: HBA2 HGNC NCBI

Linked Data

dbSNP Id: rs1902050822
gnomAD v4: 16-173290-G-A
MyVariant Identifiers: chr16:g.223289G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173290G>A , CM000678.2:g.173290G>A GRCh38
NC_000016.9:g.223289G>A , CM000678.1:g.223289G>A GRCh37
NC_000016.8:g.163289G>A NCBI36
NG_000006.1:g.34153G>A
NG_059186.1:g.1640G>A
NG_059271.1:g.5444G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000251595.11:c.261G>A MANE Select ENSP00000251595.6:p.Leu87=
ENST00000251595.10:c.261G>A ENSP00000251595.6:p.Leu87=
ENST00000397806.1:c.165G>A ENSP00000380908.1:p.Leu55=
ENST00000482565.1:n.397G>A
ENST00000484216.1:n.230G>A
NM_000517.4:c.261G>A NP_000508.1:p.Leu87=
NM_000517.6:c.261G>A MANE Select NP_000508.1:p.Leu87=