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 | MUC5AC PTDSS2 EPS8L2 SIGIRR LMNTD2 SLC25A22 LRRC56 PNPLA2 DEAF1 MUC2 CD151 PHRF1 TALDO1 HRAS PKP3 MIR210HG B4GALNT4 MUC5B TMEM80 TSPAN4 PIDD1 CRACR2B LOC171391 AP2A2 RASSF7 POLR2L MUC6 LOC143666 PANO1 TOLLIP LOC101059906 MIR210 IRF7 DRD4 ANO9 SCT LOC101927503 CDHR5 RNH1 SNORA52 RPLP2 PDDC1 CEND1 MIR6744 CHID1 |
dgv175e214 | Chr.11:851409 - 1043855 on Build GRCh38 | Gain | MUC6 CHID1 TSPAN4 AP2A2 |
nsv428244 | Chr.11:882364 - 1061595 on Build GRCh38 | Loss | MUC6 CHID1 LOC101927503 AP2A2 |
dgv1013n100 | Chr.11:772982 - 933569 on Build GRCh38 | Gain | POLR2L PANO1 SLC25A22 SNORA52 RPLP2 PNPLA2 CD151 PDDC1 CEND1 CHID1 TSPAN4 PIDD1 CRACR2B LOC171391 AP2A2 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | MUC5AC PTDSS2 EPS8L2 SIGIRR LMNTD2 SLC25A22 TOLLIP-AS1 LRRC56 PNPLA2 DEAF1 MUC2 CD151 PHRF1 TALDO1 HRAS MIR210HG MUC5B TMEM80 TSPAN4 PIDD1 CRACR2B LOC171391 AP2A2 RASSF7 POLR2L MUC6 LOC143666 PANO1 TOLLIP LOC101059906 MIR210 IRF7 DRD4 ANO9 SCT LOC101927503 CDHR5 RNH1 SNORA52 RPLP2 PDDC1 CEND1 MIR6744 CHID1 |
esv2669189 | Chr.11:864834 - 1489637 on Build GRCh38 | Deletion | MUC6 MUC5AC TOLLIP BRSK2 LOC101927503 TOLLIP-AS1 MOB2 MUC2 MIR6744 CHID1 MUC5B TSPAN4 AP2A2 |
nsv832044 | Chr.11:809019 - 938308 on Build GRCh38 | Loss | POLR2L CD151 CHID1 TSPAN4 PIDD1 SNORA52 CRACR2B RPLP2 PNPLA2 AP2A2 |
dgv182e199 | Chr.11:349830 - 943372 on Build GRCh38 | Deletion | PTDSS2 EPS8L2 SIGIRR LMNTD2 SLC25A22 LRRC56 PNPLA2 DEAF1 CD151 PHRF1 TALDO1 HRAS PKP3 MIR210HG B4GALNT4 TMEM80 TSPAN4 PIDD1 CRACR2B LOC171391 AP2A2 RASSF7 POLR2L LOC143666 PANO1 LOC101059906 MIR210 IRF7 DRD4 ANO9 SCT CDHR5 RNH1 SNORA52 RPLP2 PDDC1 CEND1 CHID1 |
esv2743878 | Chr.11:864732 - 1489652 on Build GRCh38 | Deletion | MUC6 MUC5AC TOLLIP BRSK2 LOC101927503 TOLLIP-AS1 MOB2 MUC2 MIR6744 CHID1 MUC5B TSPAN4 AP2A2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |