Canonical Allele Identifier: CA492785666
Gene: HBA2 HGNC NCBI

Linked Data

gnomAD v4: 16-173597-T-G
MyVariant Identifiers: chr16:g.223596T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173597T>G , CM000678.2:g.173597T>G GRCh38
NC_000016.9:g.223596T>G , CM000678.1:g.223596T>G GRCh37
NC_000016.8:g.163596T>G NCBI36
NG_000006.1:g.34460T>G
NG_059186.1:g.1947T>G
NG_059271.1:g.5751T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.426T>G MANE Select ENSP00000251595.6:p.Arg142=
ENST00000251595.10:c.426T>G ENSP00000251595.6:p.Arg142=
ENST00000397806.1:c.330T>G ENSP00000380908.1:p.Arg110=
ENST00000482565.1:n.562T>G
NM_000517.4:c.426T>G NP_000508.1:p.Arg142=
NM_000517.6:c.426T>G MANE Select NP_000508.1:p.Arg142=
Search 100 bp 5'
Search 100 bp 3'