Revel Score:
ENST00000407775 (MANE Select)
0.275
ENST00000520492
0.275
ENST00000517361
0.275
ENST00000378472
0.275
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000739 (EAS)
Exomes Max Group AF
0.00000835 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.105802189A>G , CM000670.2:g.105802189A>G | GRCh38 |
| NC_000008.10:g.106814417A>G , CM000670.1:g.106814417A>G | GRCh37 |
| NC_000008.9:g.106883593A>G | NCBI36 |
| NG_011723.1:g.488271A>G | |
| NG_011723.2:g.488271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407775.7:c.2107A>G (ZFPM2) MANE Select | ENSP00000384179.2:p.Met703Val | |
| ENST00000407775.6:c.2107A>G (ZFPM2) | ENSP00000384179.2:p.Met703Val | |
| ENST00000517361.1:c.1711A>G (ZFPM2) | ENSP00000428720.1:p.Met571Val | |
| ENST00000520492.5:c.1711A>G (ZFPM2) | ENSP00000430757.1:p.Met571Val | |
| ENST00000522296.1:n.1901A>G (ZFPM2) | ||
| NM_012082.3:c.2107A>G (ZFPM2) | NP_036214.2:p.Met703Val | |
| NR_125796.1:n.180-3747T>C (ZFPM2-AS1) | ||
| NR_125797.1:n.191-3747T>C (ZFPM2-AS1) | ||
| XM_011516946.1:c.2146A>G (ZFPM2) | XP_011515248.1:p.Met716Val | |
| XM_011516947.1:c.2077A>G (ZFPM2) | XP_011515249.1:p.Met693Val | |
| XM_011516948.1:c.1948A>G (ZFPM2) | XP_011515250.1:p.Met650Val | |
| XM_011516949.1:c.1939A>G (ZFPM2) | XP_011515251.1:p.Met647Val | |
| NM_001362836.1:c.1948A>G (ZFPM2) | NP_001349765.1:p.Met650Val | |
| NM_001362837.1:c.1711A>G (ZFPM2) | NP_001349766.1:p.Met571Val | |
| XM_011516947.3:c.2077A>G (ZFPM2) | XP_011515249.1:p.Met693Val | |
| NM_012082.4:c.2107A>G (ZFPM2) MANE Select | NP_036214.2:p.Met703Val | |
| NM_001362836.2:c.1948A>G (ZFPM2) | NP_001349765.1:p.Met650Val | |
| NM_001362837.2:c.1711A>G (ZFPM2) | NP_001349766.1:p.Met571Val |