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 2 |
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_011519929.1 | XP_011518231.1 | |||
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 | AP2A2 CHID1 |
nsv7635 | Chr.11:954928 - 958292 on Build GRCh38 | Insertion | AP2A2 |
nsv469923 | Chr.11:378188 - 1302334 on Build GRCh38 | Loss | EPS8L2 TOLLIP POLR2L DRD4 AP2A2 PNPLA2 CRACR2B TALDO1 PHRF1 RPLP2 MIR210HG LOC143666 MIR210 TSPAN4 PDDC1 SCT PKP3 TMEM80 RNH1 LOC101927503 MUC5B MUC6 SIGIRR CEND1 DEAF1 HRAS B4GALNT4 CD151 PTDSS2 ANO9 PANO1 LRRC56 PIDD1 MUC2 LOC171391 SNORA52 RASSF7 IRF7 CDHR5 LOC101059906 MUC5AC SLC25A22 LMNTD2 MIR6744 CHID1 |
dgv175e214 | Chr.11:851409 - 1043855 on Build GRCh38 | Gain | TSPAN4 MUC6 AP2A2 CHID1 |
nsv428244 | Chr.11:882364 - 1061595 on Build GRCh38 | Loss | LOC101927503 MUC6 AP2A2 CHID1 |
esv2759794 | Chr.11:409846 - 1336162 on Build GRCh38 | Loss | EPS8L2 TOLLIP POLR2L DRD4 AP2A2 PNPLA2 CRACR2B TALDO1 PHRF1 RPLP2 MIR210HG LOC143666 MIR210 TSPAN4 PDDC1 SCT TOLLIP-AS1 TMEM80 RNH1 LOC101927503 MUC5B MUC6 SIGIRR CEND1 DEAF1 HRAS CD151 PTDSS2 ANO9 PANO1 LRRC56 PIDD1 MUC2 LOC171391 SNORA52 RASSF7 IRF7 CDHR5 LOC101059906 MUC5AC SLC25A22 LMNTD2 MIR6744 CHID1 |
esv2669189 | Chr.11:864834 - 1489637 on Build GRCh38 | Deletion | LOC101927503 TOLLIP MUC5B MUC6 AP2A2 MUC2 BRSK2 TSPAN4 TOLLIP-AS1 MOB2 MUC5AC MIR6744 CHID1 |
esv2743878 | Chr.11:864732 - 1489652 on Build GRCh38 | Deletion | LOC101927503 TOLLIP MUC5B MUC6 AP2A2 MUC2 BRSK2 TSPAN4 TOLLIP-AS1 MOB2 MUC5AC MIR6744 CHID1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |