Canonical Allele Identifier: CA492785669
Gene: HBA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.223598A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.173599A>G , CM000678.2:g.173599A>G GRCh38
NC_000016.9:g.223598A>G , CM000678.1:g.223598A>G GRCh37
NC_000016.8:g.163598A>G NCBI36
NG_000006.1:g.34462A>G
NG_059186.1:g.1949A>G
NG_059271.1:g.5753A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251595.11:c.428A>G MANE Select ENSP00000251595.6:p.Ter143=
ENST00000251595.10:c.428A>G ENSP00000251595.6:p.Ter143=
ENST00000397806.1:c.332A>G ENSP00000380908.1:p.Ter111=
ENST00000482565.1:n.564A>G
NM_000517.4:c.428A>G NP_000508.1:p.Ter143=
NM_000517.6:c.428A>G MANE Select NP_000508.1:p.Ter143=
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