Assay Details
Target Gene Details
Entrez Gene ID: | 22941 |
Gene Name: | SH3 and multiple ankyrin repeat domains 2 |
Gene Aliases: |
AUTS17, CORTBP1, CTTNBP1, ProSAP1, SHANK, SPANK-3 |
Location: |
Chr.11:70467856-71252724 on Build GRCh38 |
Assay Gene Location: | Within Exon 30 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SHANK2 | NM_012309.4 | 25 | 8834 | NP_036441.2 |
NM_133266.4 | 11 | 7031 | NP_573573.2 | |
NR_110766.1 | 9 | 4576 | ||
XM_005277932.3 | 16 | 7839 | XP_005277989.1 | |
XM_017017387.1 | 26 | 8939 | XP_016872876.1 | |
XM_017017388.1 | 26 | 8961 | XP_016872877.1 | |
XM_017017389.1 | 26 | 9107 | XP_016872878.1 | |
XM_017017390.1 | 13 | 10072 | XP_016872879.1 | |
AB028945.1 | 8 | 6568 | BAA82974.1 | |
AB208025.1 | 25 | 8800 | ||
AB208026.1 | 16 | 7622 | ||
AB208027.1 | 11 | 7009 | ||
AK128563.1 | 1 | 4401 | ||
BX648718.1 | 1 | 5474 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv825985 | Chr.11:70469160 - 70469939 on Build GRCh38 | Gain | SHANK2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |