dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.81098386 (AMR)
Genomes Max Group AF
0.81098386 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78872532A>G , CM000679.2:g.78872532A>G | GRCh38 |
| NC_000017.10:g.76868614A>G , CM000679.1:g.76868614A>G | GRCh37 |
| NC_000017.9:g.74380209A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586713.6:c.-1+1287T>C (TIMP2) | ENSP00000465968.2:n.-1+1287T>C | |
| ENST00000706922.1:c.-1+1287T>C (TIMP2) | ENSP00000516642.1:n.-1+1287T>C | |
| ENST00000706923.1:c.-1+1287T>C (TIMP2) | ENSP00000516643.1:n.-1+1287T>C | |
| ENST00000262768.11:c.231+1287T>C (TIMP2) MANE Select | ENSP00000262768.6:n.231+1287T>C | |
| ENST00000536189.6:c.-1+1287T>C (TIMP2) | ENSP00000441724.1:n.-1+1287T>C | |
| ENST00000585421.5:c.-1+1287T>C (TIMP2) | ENSP00000467584.1:n.-1+1287T>C | |
| ENST00000586057.5:c.-1+1287T>C (TIMP2) | ENSP00000468296.1:n.-1+1287T>C | |
| ENST00000586713.5:c.-1+1287T>C (CEP295NL) | ENSP00000465968.1:n.-1+1287T>C | |
| ENST00000592761.2:c.-1+1287T>C (TIMP2) | ENSP00000464930.1:n.-1+1287T>C | |
| NM_003255.4:c.231+1287T>C (TIMP2) | NP_003246.1:n.231+1287T>C | |
| NM_003255.5:c.231+1287T>C (TIMP2) MANE Select | NP_003246.1:n.231+1287T>C |