HBA2 hemoglobin subunit alpha 2

Information
Symbol
HBA2
Type
protein-coding
Description
hemoglobin subunit alpha 2
Entrez Gene ID
3040
Genome
hg19
Position
chr16:222,875-223,709
Genome
hg38
Position
chr16:172,876-173,710
MIM
141850 OMIM
HGNC
HGNC:4824 HGNC
Ensembl
ENSG00000188536 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 90
Likely pathogenic 0 44
Benign 0 14
Likely benign 0 70
Conflicting classifications of pathogenicity 0 56
no classification for the single variant 0 4
other 0 68
Pathogenic; other 0 10
Uncertain significance 0 118
Ranking
ClinVar
0
0
82
212
102
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM ECYT7
SYNONYM HBA-T2
SYNONYM HBH
MIM 141850 OMIM
HGNC HGNC:4824 HGNC
Ensembl ENSG00000188536 Ensembl
AllianceGenome HGNC:4824
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000251595.11 hg38 chr16 172,876 173,710 835
ENST00000397806.1 hg38 chr16 172,890 173,710 821
ENST00000251595.11 hg19 chr16 222,875 223,709 835
ENST00000397806.1 hg19 chr16 222,889 223,709 821
Genome browser