Linked Data
ClinVar Variation Id:
291782
dbSNP Id:
rs12085877
ExAC:
1:11087687 C / T
gnomAD v2:
1-11087687-C-T
gnomAD v3:
1-11027630-C-T
gnomAD v4:
1-11027630-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11027630C>T , CM000663.2:g.11027630C>T | GRCh38 |
| NC_000001.10:g.11087687C>T , CM000663.1:g.11087687C>T | GRCh37 |
| NC_000001.9:g.11010274C>T | NCBI36 |
| NG_007289.1:g.24599G>A | |
| NG_007289.2:g.24599G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699927.1:n.255G>A (MASP2) | ||
| ENST00000699958.1:c.1211G>A (MASP2) | ENSP00000514717.1:p.Arg404His | |
| ENST00000700088.1:c.1298-782G>A (MASP2) | ENSP00000514787.1:n.1298-782G>A | |
| ENST00000700089.1:c.1313G>A (MASP2) | ENSP00000514788.1:n.1313G>A | |
| ENST00000700090.1:c.1195G>A (MASP2) | ENSP00000514789.1:n.1195G>A | |
| ENST00000700091.1:c.1118G>A (MASP2) | ENSP00000514790.1:p.Arg373His | |
| ENST00000700092.1:c.1295G>A (MASP2) | ENSP00000514791.1:p.Arg432His | |
| ENST00000700093.1:c.1292G>A (MASP2) | ENSP00000514792.1:p.Arg431His | |
| ENST00000700094.1:c.1324G>A (MASP2) | ENSP00000514793.1:n.1324G>A | |
| ENST00000700095.1:c.1298-782G>A (MASP2) | ENSP00000514794.1:n.1298-782G>A | |
| ENST00000700096.1:c.1101-782G>A (MASP2) | ENSP00000514795.1:n.1101-782G>A | |
| ENST00000700097.1:c.1344G>A (MASP2) | ENSP00000514796.1:p.Pro448= | |
| ENST00000400897.8:c.1316G>A (MASP2) MANE Select | ENSP00000383690.3:p.Arg439His | |
| ENST00000400897.7:c.1316G>A (MASP2) | ENSP00000383690.3:p.Arg439His | |
| ENST00000611136.4:c.448+2422C>T | ||
| ENST00000612542.1:c.206+2422C>T | ||
| ENST00000614757.4:c.*452+2422C>T | ENSP00000481867.1:n.*452+2422C>T | |
| ENST00000620028.1:n.416+2422C>T | ||
| ENST00000622108.1:c.232-2057C>T | ENSP00000480398.1:n.232-2057C>T | |
| NM_006610.3:c.1316G>A (MASP2) | NP_006601.2:p.Arg439His | |
| XM_017000863.2:c.*3011+1965C>T (TARDBP) | XP_016856352.1:n.*3011+1965C>T | |
| XM_017000864.2:c.*1895+1965C>T (TARDBP) | XP_016856353.1:n.*1895+1965C>T | |
| XM_017000865.2:c.*1781-2057C>T (TARDBP) | XP_016856354.1:n.*1781-2057C>T | |
| NM_006610.4:c.1316G>A (MASP2) MANE Select | NP_006601.2:p.Arg439His |