Linked Data
dbSNP Id:
rs764475083
ExAC:
1:11087516 T / C
gnomAD v2:
1-11087516-T-C
gnomAD v4:
1-11027459-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11027459T>C , CM000663.2:g.11027459T>C | GRCh38 |
| NC_000001.10:g.11087516T>C , CM000663.1:g.11087516T>C | GRCh37 |
| NC_000001.9:g.11010103T>C | NCBI36 |
| NG_007289.1:g.24770A>G | |
| NG_008734.1:g.19838T>C , LRG_659:g.19838T>C | |
| NG_007289.2:g.24770A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699927.1:n.426A>G (MASP2) | ||
| ENST00000699958.1:c.1382A>G (MASP2) | ENSP00000514717.1:p.Asp461Gly | |
| ENST00000700088.1:c.1298-611A>G (MASP2) | ENSP00000514787.1:n.1298-611A>G | |
| ENST00000700089.1:c.1484A>G (MASP2) | ENSP00000514788.1:n.1484A>G | |
| ENST00000700090.1:c.1366A>G (MASP2) | ENSP00000514789.1:n.1366A>G | |
| ENST00000700091.1:c.1289A>G (MASP2) | ENSP00000514790.1:p.Asp430Gly | |
| ENST00000700092.1:c.1466A>G (MASP2) | ENSP00000514791.1:p.Asp489Gly | |
| ENST00000700093.1:c.1463A>G (MASP2) | ENSP00000514792.1:p.Asp488Gly | |
| ENST00000700094.1:c.1495A>G (MASP2) | ENSP00000514793.1:n.1495A>G | |
| ENST00000700095.1:c.1298-611A>G (MASP2) | ENSP00000514794.1:n.1298-611A>G | |
| ENST00000700096.1:c.1101-611A>G (MASP2) | ENSP00000514795.1:n.1101-611A>G | |
| ENST00000700097.1:c.1515A>G (MASP2) | ENSP00000514796.1:n.1515A>G | |
| ENST00000400897.8:c.1487A>G (MASP2) MANE Select | ENSP00000383690.3:p.Asp496Gly | |
| ENST00000400897.7:c.1487A>G (MASP2) | ENSP00000383690.3:p.Asp496Gly | |
| ENST00000611136.4:c.448+2251T>C | ||
| ENST00000612542.1:c.206+2251T>C | ||
| ENST00000614757.4:c.*452+2251T>C | ENSP00000481867.1:n.*452+2251T>C | |
| ENST00000620028.1:n.416+2251T>C | ||
| ENST00000622108.1:c.232-2228T>C | ENSP00000480398.1:n.232-2228T>C | |
| NM_006610.3:c.1487A>G (MASP2) | NP_006601.2:p.Asp496Gly | |
| XM_017000863.2:c.*3011+1794T>C (TARDBP) | XP_016856352.1:n.*3011+1794T>C | |
| XM_017000864.2:c.*1895+1794T>C (TARDBP) | XP_016856353.1:n.*1895+1794T>C | |
| XM_017000865.2:c.*1781-2228T>C (TARDBP) | XP_016856354.1:n.*1781-2228T>C | |
| NM_006610.4:c.1487A>G (MASP2) MANE Select | NP_006601.2:p.Asp496Gly |