Linked Data
ClinVar Variation Id:
291778
ClinVar RCV Id:
RCV000276598
dbSNP Id:
rs202214079
ExAC:
1:11087276 G / A
gnomAD v2:
1-11087276-G-A
gnomAD v3:
1-11027219-G-A
gnomAD v4:
1-11027219-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11027219G>A , CM000663.2:g.11027219G>A | GRCh38 |
| NC_000001.10:g.11087276G>A , CM000663.1:g.11087276G>A | GRCh37 |
| NC_000001.9:g.11009863G>A | NCBI36 |
| NG_007289.1:g.25010C>T | |
| NG_008734.1:g.19598G>A , LRG_659:g.19598G>A | |
| NG_007289.2:g.25010C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699927.1:n.666C>T (MASP2) | ||
| ENST00000699958.1:c.1622C>T (MASP2) | ENSP00000514717.1:p.Thr541Ile | |
| ENST00000700088.1:c.1298-371C>T (MASP2) | ENSP00000514787.1:n.1298-371C>T | |
| ENST00000700089.1:c.1724C>T (MASP2) | ENSP00000514788.1:n.1724C>T | |
| ENST00000700090.1:c.1606C>T (MASP2) | ENSP00000514789.1:n.1606C>T | |
| ENST00000700091.1:c.1529C>T (MASP2) | ENSP00000514790.1:p.Thr510Ile | |
| ENST00000700092.1:c.1706C>T (MASP2) | ENSP00000514791.1:p.Thr569Ile | |
| ENST00000700093.1:c.1703C>T (MASP2) | ENSP00000514792.1:p.Thr568Ile | |
| ENST00000700094.1:c.1735C>T (MASP2) | ENSP00000514793.1:n.1735C>T | |
| ENST00000700095.1:c.1298-371C>T (MASP2) | ENSP00000514794.1:n.1298-371C>T | |
| ENST00000700096.1:c.1101-371C>T (MASP2) | ENSP00000514795.1:n.1101-371C>T | |
| ENST00000400897.8:c.1727C>T (MASP2) MANE Select | ENSP00000383690.3:p.Thr576Ile | |
| ENST00000400897.7:c.1727C>T (MASP2) | ENSP00000383690.3:p.Thr576Ile | |
| ENST00000611136.4:c.448+2011G>A | ||
| ENST00000612542.1:c.206+2011G>A | ||
| ENST00000614757.4:c.*452+2011G>A | ENSP00000481867.1:n.*452+2011G>A | |
| ENST00000620028.1:n.416+2011G>A | ||
| ENST00000622108.1:c.231+2011G>A | ENSP00000480398.1:n.231+2011G>A | |
| NM_006610.3:c.1727C>T (MASP2) | NP_006601.2:p.Thr576Ile | |
| XM_017000863.2:c.*3011+1554G>A (TARDBP) | XP_016856352.1:n.*3011+1554G>A | |
| XM_017000864.2:c.*1895+1554G>A (TARDBP) | XP_016856353.1:n.*1895+1554G>A | |
| XM_017000865.2:c.*1780+2011G>A (TARDBP) | XP_016856354.1:n.*1780+2011G>A | |
| NM_006610.4:c.1727C>T (MASP2) MANE Select | NP_006601.2:p.Thr576Ile |