HBA2 gene homepage

General information
Gene symbol HBA2
Gene name hemoglobin, alpha 2
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_000006.1
Transcript reference NM_000517.4
Exon/intron information NM_000517.4 exon/intron table
Associated with diseases anemia, Heinz, thal, thal-alpa, hemoglobin H disease
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 515
Unique public DNA variants reported 453
Individuals with public variants 797
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created November 06, 2008
Date last updated March 23, 2020
Version HBA2:200323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000517.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/HBA2
External URL HbVar - human hemoglobin variants and thalassemias
The Globin Gene Server
HGNC 4824
Entrez Gene 3040
PubMed articles HBA2
OMIM - Gene 141850
OMIM - Diseases anemia, Heinz (anemia, Heinz body)
thal-alpa (thalassemia, alpha)
hemoglobin H disease
GeneCards HBA2
GeneTests HBA2

Active transcripts




NCBI ID     

NCBI Protein ID     

00009170 16 hemoglobin, alpha 2 NM_000517.4 NP_000508.1 515

Copyright & disclaimer
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