Assay Details
Target Gene Details
Entrez Gene ID: | 161 |
Gene Name: | adaptor related protein complex 2 alpha 2 subunit |
Gene Aliases: |
ADTAB, CLAPA2, HIP-9, HIP9, HYPJ |
Location: |
Chr.11:925809-1012245 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AP2A2 | NM_001242837.1 | NP_001229766.1 | ||
NM_012305.3 | NP_036437.1 | |||
XM_011519930.2 | XP_011518232.1 | |||
AB020706.2 | BAA74922.2 | |||
AK001986.1 | ||||
AK027891.1 | BAB55435.1 | |||
AK223558.1 | BAD97278.1 | |||
AK293763.1 | ||||
AK299364.1 | ||||
BC006155.1 | AAH06155.1 | |||
BG705558.1 | ||||
BI462785.1 | ||||
DB461570.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3625088 | Chr.11:876861 - 979340 on Build GRCh38 | Gain | CHID1 AP2A2 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | LMNTD2 TSPAN4 POLR2L LOC101927503 LOC171391 PANO1 CEND1 PKP3 TALDO1 SNORA52 MUC2 LOC143666 PHRF1 PDDC1 RNH1 PTDSS2 ANO9 CRACR2B SIGIRR DRD4 TMEM80 LOC101059906 SCT RASSF7 MUC5AC SLC25A22 PNPLA2 HRAS MIR6744 CHID1 MIR210HG EPS8L2 IRF7 AP2A2 CDHR5 LRRC56 CD151 MUC5B PIDD1 RPLP2 B4GALNT4 TOLLIP DEAF1 MIR210 MUC6 |
dgv175e214 | Chr.11:851409 - 1043855 on Build GRCh38 | Gain | TSPAN4 CHID1 AP2A2 MUC6 |
nsv428244 | Chr.11:882364 - 1061595 on Build GRCh38 | Loss | LOC101927503 CHID1 AP2A2 MUC6 |
dgv1013n100 | Chr.11:772982 - 933569 on Build GRCh38 | Gain | TSPAN4 POLR2L LOC171391 PANO1 CEND1 SNORA52 SLC25A22 PNPLA2 CHID1 PDDC1 AP2A2 CD151 PIDD1 RPLP2 CRACR2B |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | LMNTD2 TSPAN4 POLR2L LOC101927503 LOC171391 PANO1 CEND1 TALDO1 SNORA52 MUC2 LOC143666 PHRF1 PDDC1 RNH1 PTDSS2 ANO9 CRACR2B SIGIRR DRD4 TMEM80 LOC101059906 SCT RASSF7 MUC5AC SLC25A22 PNPLA2 HRAS MIR6744 CHID1 MIR210HG EPS8L2 IRF7 AP2A2 TOLLIP-AS1 CDHR5 LRRC56 CD151 MUC5B PIDD1 RPLP2 TOLLIP DEAF1 MIR210 MUC6 |
esv2669189 | Chr.11:864834 - 1489637 on Build GRCh38 | Deletion | TSPAN4 LOC101927503 MOB2 BRSK2 MUC2 MUC5AC MIR6744 CHID1 AP2A2 TOLLIP-AS1 MUC5B TOLLIP MUC6 |
nsv832044 | Chr.11:809019 - 938308 on Build GRCh38 | Loss | TSPAN4 POLR2L CHID1 AP2A2 SNORA52 CD151 PIDD1 RPLP2 CRACR2B PNPLA2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | LMNTD2 TSPAN4 POLR2L LOC171391 PANO1 CEND1 PKP3 TALDO1 SNORA52 LOC143666 PHRF1 PDDC1 RNH1 PTDSS2 ANO9 CRACR2B SIGIRR DRD4 TMEM80 LOC101059906 SCT RASSF7 SLC25A22 PNPLA2 HRAS CHID1 MIR210HG EPS8L2 IRF7 AP2A2 CDHR5 LRRC56 CD151 PIDD1 RPLP2 B4GALNT4 DEAF1 MIR210 |
esv2743878 | Chr.11:864732 - 1489652 on Build GRCh38 | Deletion | TSPAN4 LOC101927503 MOB2 BRSK2 MUC2 MUC5AC MIR6744 CHID1 AP2A2 TOLLIP-AS1 MUC5B TOLLIP MUC6 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |