Assay Details
Target Gene Details
Entrez Gene ID: | 55679 |
Gene Name: | LIM zinc finger domain containing 2 |
Gene Aliases: |
LGMD2W, PINCH-2, PINCH2 |
Location: |
Chr.2:127638421-127681786 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
LIMS2 | NM_001136037.2 | NP_001129509.2 | ||
NM_001161403.1 | NP_001154875.1 | |||
NM_001161404.1 | NP_001154876.1 | |||
NM_001256542.1 | NP_001243471.1 | |||
NM_017980.4 | NP_060450.2 | |||
XM_005263710.2 | XP_005263767.1 | |||
XM_006712627.3 | XP_006712690.1 | |||
XM_011511453.1 | XP_011509755.1 | |||
AF484961.1 | AAM97589.1 | |||
AF520987.1 | AAM77350.1 | |||
AF527764.1 | AAQ09011.1 | |||
AF527765.1 | AAQ09012.1 | |||
AF527766.1 | AAQ09013.1 | |||
AF527767.1 | AAQ09014.1 | |||
AF527770.1 | AAQ09017.1 | |||
AK000906.1 | BAA91419.1 | |||
AK022470.1 | BAB14047.1 | |||
AK055363.1 | ||||
AK091652.1 | ||||
AK094954.1 | ||||
AK095790.1 | ||||
AK123014.1 | ||||
AK297645.1 | ||||
BC065816.1 | AAH65816.1 | |||
BX458594.2 | ||||
DA848179.1 | ||||
DC356496.1 | ||||
DR006887.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv517532 | Chr.2:127630362 - 127647285 on Build GRCh38 | Loss | MYO7B LIMS2 GPR17 |
dgv4069n100 | Chr.2:127537744 - 127722066 on Build GRCh38 | Gain | SFT2D3 WDR33 MYO7B LIMS2 LOC105373609 GPR17 |
nsv508864 | Chr.2:127585891 - 127684658 on Build GRCh38 | Insertion | MYO7B LIMS2 GPR17 |
nsv953155 | Chr.2:127617926 - 127665326 on Build GRCh38 | Deletion | MYO7B LIMS2 GPR17 |
nsv518085 | Chr.2:127576838 - 127647285 on Build GRCh38 | Loss | MYO7B LIMS2 GPR17 |
nsv470482 | Chr.2:127593233 - 127707973 on Build GRCh38 | Loss | SFT2D3 WDR33 MYO7B LIMS2 GPR17 |
nsv583038 | Chr.2:127641265 - 127718910 on Build GRCh38 | Loss | SFT2D3 WDR33 LIMS2 GPR17 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |