gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82785122 (NFE)
Genomes Max Group AF
0.82785122 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78885621T>C , CM000679.2:g.78885621T>C | GRCh38 |
| NC_000017.10:g.76881703T>C , CM000679.1:g.76881703T>C | GRCh37 |
| NC_000017.9:g.74393298T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586713.6:c.-101-11702A>G (TIMP2) | ENSP00000465968.2:n.-101-11702A>G | |
| ENST00000262768.11:c.131-11702A>G (TIMP2) MANE Select | ENSP00000262768.6:n.131-11702A>G | |
| ENST00000536189.6:c.-101-11702A>G (TIMP2) | ENSP00000441724.1:n.-101-11702A>G | |
| ENST00000586713.5:c.-101-11702A>G (CEP295NL) | ENSP00000465968.1:n.-101-11702A>G | |
| NM_003255.4:c.131-11702A>G (TIMP2) | NP_003246.1:n.131-11702A>G | |
| NM_003255.5:c.131-11702A>G (TIMP2) MANE Select | NP_003246.1:n.131-11702A>G |