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Entrez Gene ID: | 25978 |
Gene Name: | charged multivesicular body protein 2B |
Gene Aliases: |
ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B |
Location: |
Chr.3:87227263-87255548 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CHMP2B | NM_001244644.1 | 5 | 1208 | NP_001231573.1 |
NM_014043.3 | 6 | 1300 | NP_054762.2 | |
XM_011533576.2 | 6 | 1131 | XP_011531878.1 | |
AK002165.1 | 6 | 1273 | ||
AK002180.1 | 6 | 1278 | ||
AL080122.1 | 6 | 1273 | CAB45721.1 | |
BC001553.1 | 6 | 1116 | AAH01553.1 |
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3568885 | Chr.3:87182571 - 87518398 on Build GRCh38 | Loss | CHMP2B POU1F1 MIR4795 |
nsv527279 | Chr.3:86796784 - 87814130 on Build GRCh38 | Gain | VGLL3 HTR1F LINC00506 CHMP2B POU1F1 MIR4795 |
Set Membership: |
Intragenic Exonic DGV Variation |