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C185541Level 5

HBA2 NP_000508.1:p.*143Qext*31

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A change in the termination codon at position 143 in the hemoglobin subunit alpha protein where the termination codon has been replaced by a C-terminal extension comprised of glutamine followed by 29 additional amino acids and ending at a new stop codon at position 31.

**Synonyms:** - Alpha-Globin *143Glnext*31 - Alpha-Globin *143Qext*31 - HBA CS - HBA Constant Spring Variant - HBA2 *143Glnext*31 - HBA2 *143Qext*31 - HBA2 CS - HBA2 Constant Spring Variant - HBA2 NP_000508.1:p.*143Glnext*31 - HBA2 NP_000508.1:p.Ter143GlnextTer31 - HBA2 Ter143GlnextTer31 - HBA2 p.*143Glnext*31 - HBA2 p.*143Qext*31 - HBA2 p.Ter143GlnextTer31 - Hb CS - Hb CS Variant - Hb Constant Spring Alpha2 142, Stop>Gln with Modified C-terminal Sequence - Hemoglobin Alpha Chain *143Glnext*31 - Hemoglobin Alpha Chain *143Qext*31 - Hemoglobin Alpha Constant Spring Variant - Hemoglobin Constant Spring Variant - Hemoglobin Subunit Alpha *143Glnext*31 - Hemoglobin Subunit Alpha *143Qext*31 - Hemoglobin Subunit Alpha Constant Spring Variant - NP_000508.1:p.*143Glnext*31 - NP_000508.1:p.*143Qext*31 - NP_000508.1:p.Ter143Gln - NP_000508.1:p.Ter143GlnextTer31

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