PSMA2 proteasome 20S subunit alpha 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Uncertain significance | 0 | 2 |
Ranking
ClinVar | |
---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
4 |
![]() |
0 |
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 |
Type | ID |
---|---|
SYNONYM | HC3 |
SYNONYM | MU |
SYNONYM | PMSA2 |
SYNONYM | PSC2 |
MIM | 176842 OMIM |
HGNC | HGNC:9531 HGNC |
Ensembl | ENSG00000106588 Ensembl |
AllianceGenome | HGNC:9531 |
Descrption | Source | Links |
---|
ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000223321.9 | hg38 | chr7 | 42,916,861 | 42,932,174 | 15,314 |
ENST00000445517.1 | hg38 | chr7 | 42,917,413 | 42,932,185 | 14,773 |
ENST00000223321.9 | hg19 | chr7 | 42,956,460 | 42,971,773 | 15,314 |
ENST00000445517.1 | hg19 | chr7 | 42,957,012 | 42,971,784 | 14,773 |
Genome browser