HBG2 hemoglobin subunit gamma 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 22 |
Likely pathogenic | 0 | 2 |
Benign | 2 | 12 |
Likely benign | 0 | 48 |
other | 0 | 70 |
Uncertain significance | 0 | 394 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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460 |
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88 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
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MGeND data only
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | HBG-T1 |
SYNONYM | TNCY |
MIM | 142250 OMIM |
HGNC | HGNC:4832 HGNC |
Ensembl | ENSG00000196565 Ensembl |
AllianceGenome | HGNC:4832 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000380252.6 | hg38 | chr11 | 5,253,190 | 5,505,605 | 252,416 |
ENST00000336906.6 | hg38 | chr11 | 5,253,188 | 5,254,781 | 1,594 |
ENST00000444587.1 | hg38 | chr11 | 5,253,389 | 5,254,741 | 1,353 |
ENST00000336906.6 | hg19 | chr11 | 5,274,418 | 5,276,011 | 1,594 |
ENST00000380252.6 | hg19 | chr11 | 5,274,420 | 5,526,835 | 252,416 |
ENST00000444587.1 | hg19 | chr11 | 5,274,619 | 5,275,971 | 1,353 |
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