Canonical Allele Identifier: CA492994603
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173194-G-A
MyVariant Identifiers: chr16:g.223193G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173194G>A , CM000678.2:g.173194G>A GRCh38
NC_000016.9:g.223193G>A , CM000678.1:g.223193G>A GRCh37
NC_000016.8:g.163193G>A NCBI36
NG_000006.1:g.34057G>A
NG_059186.1:g.1544G>A
NG_059271.1:g.5348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.165G>A MANE Select ENSP00000251595.6:p.Gln55=
ENST00000251595.10:c.165G>A ENSP00000251595.6:p.Gln55=
ENST00000397806.1:c.69G>A ENSP00000380908.1:p.Gln23=
ENST00000482565.1:n.301G>A
ENST00000484216.1:n.134G>A
NM_000517.4:c.165G>A NP_000508.1:p.Gln55=
NM_000517.6:c.165G>A MANE Select NP_000508.1:p.Gln55=
Search 100 bp 5'
Search 100 bp 3'