Linked Data
ClinVar Variation Id:
2275479
ClinVar RCV Id:
RCV004130620
dbSNP Id:
rs1203416510
gnomAD v2:
1-11087592-C-T
gnomAD v3:
1-11027535-C-T
gnomAD v4:
1-11027535-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11027535C>T , CM000663.2:g.11027535C>T | GRCh38 |
| NC_000001.10:g.11087592C>T , CM000663.1:g.11087592C>T | GRCh37 |
| NC_000001.9:g.11010179C>T | NCBI36 |
| NG_007289.1:g.24694G>A | |
| NG_007289.2:g.24694G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699927.1:n.350G>A (MASP2) | ||
| ENST00000699958.1:c.1306G>A (MASP2) | ENSP00000514717.1:p.Ala436Thr | |
| ENST00000700088.1:c.1298-687G>A (MASP2) | ENSP00000514787.1:n.1298-687G>A | |
| ENST00000700089.1:c.1408G>A (MASP2) | ENSP00000514788.1:n.1408G>A | |
| ENST00000700090.1:c.1290G>A (MASP2) | ENSP00000514789.1:n.1290G>A | |
| ENST00000700091.1:c.1213G>A (MASP2) | ENSP00000514790.1:p.Ala405Thr | |
| ENST00000700092.1:c.1390G>A (MASP2) | ENSP00000514791.1:p.Ala464Thr | |
| ENST00000700093.1:c.1387G>A (MASP2) | ENSP00000514792.1:p.Ala463Thr | |
| ENST00000700094.1:c.1419G>A (MASP2) | ENSP00000514793.1:n.1419G>A | |
| ENST00000700095.1:c.1298-687G>A (MASP2) | ENSP00000514794.1:n.1298-687G>A | |
| ENST00000700096.1:c.1101-687G>A (MASP2) | ENSP00000514795.1:n.1101-687G>A | |
| ENST00000700097.1:c.1439G>A (MASP2) | ENSP00000514796.1:n.1439G>A | |
| ENST00000400897.8:c.1411G>A (MASP2) MANE Select | ENSP00000383690.3:p.Ala471Thr | |
| ENST00000400897.7:c.1411G>A (MASP2) | ENSP00000383690.3:p.Ala471Thr | |
| ENST00000611136.4:c.448+2327C>T | ||
| ENST00000612542.1:c.206+2327C>T | ||
| ENST00000614757.4:c.*452+2327C>T | ENSP00000481867.1:n.*452+2327C>T | |
| ENST00000620028.1:n.416+2327C>T | ||
| ENST00000622108.1:c.232-2152C>T | ENSP00000480398.1:n.232-2152C>T | |
| NM_006610.3:c.1411G>A (MASP2) | NP_006601.2:p.Ala471Thr | |
| XM_017000863.2:c.*3011+1870C>T (TARDBP) | XP_016856352.1:n.*3011+1870C>T | |
| XM_017000864.2:c.*1895+1870C>T (TARDBP) | XP_016856353.1:n.*1895+1870C>T | |
| XM_017000865.2:c.*1781-2152C>T (TARDBP) | XP_016856354.1:n.*1781-2152C>T | |
| NM_006610.4:c.1411G>A (MASP2) MANE Select | NP_006601.2:p.Ala471Thr |