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: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP2A | NM_014453.3 | NP_055268.1 | ||
NM_198426.2 | NP_940818.1 | |||
XM_005258746.2 | XP_005258803.1 | |||
XM_005258747.3 | XP_005258804.1 | |||
AF042384.1 | AAC00005.1 | |||
AK092868.1 | 1 | 134 | ||
AK311974.1 | ||||
BC002502.2 | AAH02502.1 | |||
BG546479.1 | ||||
BI457978.1 | ||||
BP315111.1 | ||||
CN305066.1 |
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 TRIM28 CENPBD1P1 MZF1-AS1 MIR6807 CHMP2A UBE2M |
dgv3687n100 | Chr.19:58473466 - 58586475 on Build GRCh38 | Gain | MZF1 SLC27A5 TRIM28 ZBTB45 CENPBD1P1 ZNF446 MZF1-AS1 MIR6807 CHMP2A UBE2M ZNF324 |
nsv515731 | Chr.19:58320453 - 58576112 on Build GRCh38 | Gain+Loss | ZNF584 SLC27A5 CENPBD1P1 ZNF446 MIR6806 MZF1-AS1 CHMP2A ZNF324 MZF1 ZNF324B MIR4754 UBE2M A1BG ZSCAN22 A1BG-AS1 RPS5 MIR6807 LOC105372483 ZNF497 TRIM28 LOC100506634 LOC100419840 ZBTB45 ZNF837 ZNF132 RNF225 |
nsv952156 | Chr.19:58466134 - 58600733 on Build GRCh38 | Deletion | MZF1 SLC27A5 TRIM28 ZBTB45 CENPBD1P1 ZNF446 MZF1-AS1 MIR6807 CHMP2A UBE2M ZNF324 |
nsv1160670 | Chr.19:58433008 - 58586487 on Build GRCh38 | Deletion | SLC27A5 CENPBD1P1 ZNF446 MZF1-AS1 MIR6807 CHMP2A ZNF324 MZF1 ZNF324B TRIM28 ZBTB45 ZNF132 UBE2M |
nsv828657 | Chr.19:58483484 - 58585740 on Build GRCh38 | Gain | MZF1 SLC27A5 TRIM28 ZBTB45 CENPBD1P1 ZNF446 MZF1-AS1 MIR6807 CHMP2A UBE2M |
dgv3688n100 | Chr.19:58506055 - 58586475 on Build GRCh38 | Gain | MZF1 SLC27A5 TRIM28 ZBTB45 CENPBD1P1 MZF1-AS1 MIR6807 CHMP2A UBE2M |
nsv1057077 | Chr.19:58411953 - 58586475 on Build GRCh38 | Gain | ZNF584 SLC27A5 CENPBD1P1 ZNF446 MZF1-AS1 MIR6807 CHMP2A ZNF324 MZF1 ZNF324B TRIM28 ZBTB45 ZNF132 UBE2M |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |