Linked Data
dbSNP Id:
rs757596050
ExAC:
1:11087667 A / G
gnomAD v2:
1-11087667-A-G
gnomAD v4:
1-11027610-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11027610A>G , CM000663.2:g.11027610A>G | GRCh38 |
| NC_000001.10:g.11087667A>G , CM000663.1:g.11087667A>G | GRCh37 |
| NC_000001.9:g.11010254A>G | NCBI36 |
| NG_007289.1:g.24619T>C | |
| NG_007289.2:g.24619T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699927.1:n.275T>C (MASP2) | ||
| ENST00000699958.1:c.1231T>C (MASP2) | ENSP00000514717.1:p.Tyr411His | |
| ENST00000700088.1:c.1298-762T>C (MASP2) | ENSP00000514787.1:n.1298-762T>C | |
| ENST00000700089.1:c.1333T>C (MASP2) | ENSP00000514788.1:n.1333T>C | |
| ENST00000700090.1:c.1215T>C (MASP2) | ENSP00000514789.1:n.1215T>C | |
| ENST00000700091.1:c.1138T>C (MASP2) | ENSP00000514790.1:p.Tyr380His | |
| ENST00000700092.1:c.1315T>C (MASP2) | ENSP00000514791.1:p.Tyr439His | |
| ENST00000700093.1:c.1312T>C (MASP2) | ENSP00000514792.1:p.Tyr438His | |
| ENST00000700094.1:c.1344T>C (MASP2) | ENSP00000514793.1:n.1344T>C | |
| ENST00000700095.1:c.1298-762T>C (MASP2) | ENSP00000514794.1:n.1298-762T>C | |
| ENST00000700096.1:c.1101-762T>C (MASP2) | ENSP00000514795.1:n.1101-762T>C | |
| ENST00000700097.1:c.1364T>C (MASP2) | ENSP00000514796.1:p.Ile455Thr | |
| ENST00000400897.8:c.1336T>C (MASP2) MANE Select | ENSP00000383690.3:p.Tyr446His | |
| ENST00000400897.7:c.1336T>C (MASP2) | ENSP00000383690.3:p.Tyr446His | |
| ENST00000611136.4:c.448+2402A>G | ||
| ENST00000612542.1:c.206+2402A>G | ||
| ENST00000614757.4:c.*452+2402A>G | ENSP00000481867.1:n.*452+2402A>G | |
| ENST00000620028.1:n.416+2402A>G | ||
| ENST00000622108.1:c.232-2077A>G | ENSP00000480398.1:n.232-2077A>G | |
| NM_006610.3:c.1336T>C (MASP2) | NP_006601.2:p.Tyr446His | |
| XM_017000863.2:c.*3011+1945A>G (TARDBP) | XP_016856352.1:n.*3011+1945A>G | |
| XM_017000864.2:c.*1895+1945A>G (TARDBP) | XP_016856353.1:n.*1895+1945A>G | |
| XM_017000865.2:c.*1781-2077A>G (TARDBP) | XP_016856354.1:n.*1781-2077A>G | |
| NM_006610.4:c.1336T>C (MASP2) MANE Select | NP_006601.2:p.Tyr446His |