COSMIC:
COSM3755953 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22220072 (SAS)
Genomes Max Group AF
0.21315134 (EAS)
Exomes Max Group AF
0.22220344 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78870935C>T , CM000679.2:g.78870935C>T | GRCh38 |
| NC_000017.10:g.76867017C>T , CM000679.1:g.76867017C>T | GRCh37 |
| NC_000017.9:g.74378612C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586713.6:c.72G>A (TIMP2) | ENSP00000465968.2:p.Ser24= | |
| ENST00000706922.1:c.72G>A (TIMP2) | ENSP00000516642.1:p.Ser24= | |
| ENST00000706923.1:c.72G>A (TIMP2) | ENSP00000516643.1:p.Ser24= | |
| ENST00000262768.11:c.303G>A (TIMP2) MANE Select | ENSP00000262768.6:p.Ser101= | |
| ENST00000536189.6:c.72G>A (TIMP2) | ENSP00000441724.1:p.Ser24= | |
| ENST00000585421.5:c.72G>A (TIMP2) | ENSP00000467584.1:p.Ser24= | |
| ENST00000586057.5:c.72G>A (TIMP2) | ENSP00000468296.1:p.Ser24= | |
| ENST00000586713.5:c.72G>A (CEP295NL) | ENSP00000465968.1:p.Ser24= | |
| ENST00000592761.2:c.72G>A (TIMP2) | ENSP00000464930.1:p.Ser24= | |
| NM_003255.4:c.303G>A (TIMP2) | NP_003246.1:p.Ser101= | |
| NM_003255.5:c.303G>A (TIMP2) MANE Select | NP_003246.1:p.Ser101= |