Linked Data
dbSNP Id:
rs2889529
gnomAD v2:
17-76897475-A-G
gnomAD v3:
17-78901393-A-G
gnomAD v4:
17-78901393-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78901393A>G , CM000679.2:g.78901393A>G | GRCh38 |
| NC_000017.10:g.76897475A>G , CM000679.1:g.76897475A>G | GRCh37 |
| NC_000017.9:g.74409070A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586713.6:c.-390-136T>C (TIMP2) | ENSP00000465968.2:n.-390-136T>C | |
| ENST00000590267.6:c.-192+392T>C (CEP295NL) | ENSP00000516640.1:n.-192+392T>C | |
| ENST00000322630.3:c.44+392T>C (CEP295NL) MANE Select | ENSP00000312767.2:n.44+392T>C | |
| ENST00000262768.11:c.130+23566T>C (TIMP2) MANE Select | ENSP00000262768.6:n.130+23566T>C | |
| ENST00000322630.2:c.44+392T>C (CEP295NL) | ENSP00000312767.2:n.44+392T>C | |
| ENST00000536189.6:c.-102+20817T>C (TIMP2) | ENSP00000441724.1:n.-102+20817T>C | |
| ENST00000586713.5:c.-390-136T>C (CEP295NL) | ENSP00000465968.1:n.-390-136T>C | |
| ENST00000587052.1:n.312+392T>C (CEP295NL) | ||
| ENST00000590267.5:n.226+392T>C (CEP295NL) | ||
| ENST00000619342.1:c.44+392T>C (CEP295NL) | ENSP00000483863.1:n.44+392T>C | |
| NM_001243540.1:c.44+392T>C (CEP295NL) | NP_001230469.1:n.44+392T>C | |
| NM_001243541.1:c.-192+392T>C (CEP295NL) | NP_001230470.1:n.-192+392T>C | |
| NM_003255.4:c.130+23566T>C (TIMP2) | NP_003246.1:n.130+23566T>C | |
| XM_011524170.1:c.44+392T>C (CEP295NL) | XP_011522472.1:n.44+392T>C | |
| NM_003255.5:c.130+23566T>C (TIMP2) MANE Select | NP_003246.1:n.130+23566T>C | |
| NM_001243540.2:c.44+392T>C (CEP295NL) MANE Select | NP_001230469.1:n.44+392T>C | |
| NM_001243541.2:c.-192+392T>C (CEP295NL) | NP_001230470.1:n.-192+392T>C |