Gene HBA2 Details
It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.
Gene: HBA2
Disorder: Haemoglobin variant
Allele Frequency: 0.00921273
Carrier Rate: 0.0182557
Max At-Risk Couples rate: 0.000333271
The table below lists all clinically relevant variants identified in the HBA2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 23 |
223004 |
HBA2 |
NM_000517.6:c.95+2_95+6delTGAGG |
|
13 |
0.005444% |
| 31 |
222971 |
HBA2 |
NM_000517.6:c.60delG |
NP_000508.1:p.His21Thrfs*29 |
9 |
0.003769% |
