Assay Details
Target Gene Details
Entrez Gene ID: | 27243 |
Gene Name: | charged multivesicular body protein 2A |
Gene Aliases: |
BC-2, BC2, CHMP2, VPS2, VPS2A |
Location: |
Chr.19:58551566-58555624 on Build GRCh38 |
Assay Gene Location: | Within Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP2A | NM_014453.3 | 3 | 414 | NP_055268.1 |
NM_198426.2 | 3 | 416 | NP_940818.1 | |
XM_005258746.2 | 3 | 914 | XP_005258803.1 | |
XM_005258747.3 | 3 | 1037 | XP_005258804.1 | |
AF042384.1 | 3 | 382 | AAC00005.1 | |
AK311974.1 | 3 | 302 | ||
AY364248.1 | 2 | 253 | AAQ76807.1 | |
BC002502.2 | 3 | 386 | AAH02502.1 | |
BE856471.1 | ||||
BG546479.1 | 3 | 410 | ||
BI457978.1 | 3 | 406 | ||
BP315111.1 | 3 | 414 | ||
BT007298.1 | 2 | 253 | AAP35962.1 | |
BU147101.1 | 1 | 61 | ||
CN305066.1 | 3 | 417 | ||
CR457002.1 | 2 | 253 | CAG33283.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1057206 | Chr.19:58546716 - 58586475 on Build GRCh38 | Gain | MZF1 CHMP2A UBE2M TRIM28 MZF1-AS1 MIR6807 CENPBD1P1 |
dgv3687n100 | Chr.19:58473466 - 58586475 on Build GRCh38 | Gain | MZF1 SLC27A5 CHMP2A UBE2M ZNF324 TRIM28 ZNF446 MZF1-AS1 MIR6807 ZBTB45 CENPBD1P1 |
nsv515731 | Chr.19:58320453 - 58576112 on Build GRCh38 | Gain+Loss | ZNF324B A1BG ZNF584 MZF1-AS1 ZNF837 LOC100419840 RNF225 RPS5 UBE2M MIR6807 LOC100506634 ZNF132 MZF1 ZNF497 ZSCAN22 MIR4754 LOC105372483 CENPBD1P1 SLC27A5 A1BG-AS1 CHMP2A MIR6806 ZNF324 TRIM28 ZNF446 ZBTB45 |
nsv820066 | Chr.19:58551887 - 58552522 on Build GRCh38 | Loss | CHMP2A |
nsv952156 | Chr.19:58466134 - 58600733 on Build GRCh38 | Deletion | MZF1 SLC27A5 CHMP2A UBE2M ZNF324 TRIM28 ZNF446 MZF1-AS1 MIR6807 ZBTB45 CENPBD1P1 |
nsv1160670 | Chr.19:58433008 - 58586487 on Build GRCh38 | Deletion | ZNF132 MZF1 ZNF324B MZF1-AS1 CENPBD1P1 SLC27A5 CHMP2A UBE2M ZNF324 TRIM28 ZNF446 MIR6807 ZBTB45 |
nsv828657 | Chr.19:58483484 - 58585740 on Build GRCh38 | Gain | MZF1 SLC27A5 CHMP2A UBE2M TRIM28 ZNF446 MZF1-AS1 MIR6807 ZBTB45 CENPBD1P1 |
dgv3688n100 | Chr.19:58506055 - 58586475 on Build GRCh38 | Gain | MZF1 SLC27A5 CHMP2A UBE2M TRIM28 MZF1-AS1 MIR6807 ZBTB45 CENPBD1P1 |
nsv1057077 | Chr.19:58411953 - 58586475 on Build GRCh38 | Gain | ZNF132 MZF1 ZNF324B ZNF584 MZF1-AS1 CENPBD1P1 SLC27A5 CHMP2A UBE2M ZNF324 TRIM28 ZNF446 MIR6807 ZBTB45 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |