Canonical Allele Identifier: CA2643225792
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11027527_11027528dup , CM000663.2:g.11027527_11027528dup GRCh38
NC_000001.10:g.11087584_11087585dup , CM000663.1:g.11087584_11087585dup GRCh37
NC_000001.9:g.11010171_11010172dup NCBI36
NG_007289.1:g.24704_24705dup
NG_007289.2:g.24704_24705dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000699927.1:n.360_361dup (MASP2)
ENST00000699958.1:c.1316_1317dup (MASP2) ENSP00000514717.1:p.Asp440MetfsTer6
ENST00000700088.1:c.1298-677_1298-676dup (MASP2) ENSP00000514787.1:n.1298-677_1298-676dup
ENST00000700089.1:c.1418_1419dup (MASP2) ENSP00000514788.1:n.1418_1419dup
ENST00000700090.1:c.1300_1301dup (MASP2) ENSP00000514789.1:n.1300_1301dup
ENST00000700091.1:c.1223_1224dup (MASP2) ENSP00000514790.1:p.Asp409MetfsTer6
ENST00000700092.1:c.1400_1401dup (MASP2) ENSP00000514791.1:p.Asp468MetfsTer6
ENST00000700093.1:c.1397_1398dup (MASP2) ENSP00000514792.1:p.Asp467MetfsTer6
ENST00000700094.1:c.1429_1430dup (MASP2) ENSP00000514793.1:n.1429_1430dup
ENST00000700095.1:c.1298-677_1298-676dup (MASP2) ENSP00000514794.1:n.1298-677_1298-676dup
ENST00000700096.1:c.1101-677_1101-676dup (MASP2) ENSP00000514795.1:n.1101-677_1101-676dup
ENST00000700097.1:c.1449_1450dup (MASP2) ENSP00000514796.1:n.1449_1450dup
ENST00000400897.8:c.1421_1422dup (MASP2) MANE Select ENSP00000383690.3:p.Asp475MetfsTer6
ENST00000400897.7:c.1421_1422dup (MASP2) ENSP00000383690.3:p.Asp475MetfsTer6
ENST00000611136.4:c.448+2319_448+2320dup
ENST00000612542.1:c.206+2319_206+2320dup
ENST00000614757.4:c.*452+2319_*452+2320dup ENSP00000481867.1:n.*452+2319_*452+2320dup
ENST00000620028.1:n.416+2319_416+2320dup
ENST00000622108.1:c.232-2160_232-2159dup ENSP00000480398.1:n.232-2160_232-2159dup
NM_006610.3:c.1421_1422dup (MASP2) NP_006601.2:p.Asp475MetfsTer6
XM_017000863.2:c.*3011+1862_*3011+1863dup (TARDBP) XP_016856352.1:n.*3011+1862_*3011+1863dup
XM_017000864.2:c.*1895+1862_*1895+1863dup (TARDBP) XP_016856353.1:n.*1895+1862_*1895+1863dup
XM_017000865.2:c.*1781-2160_*1781-2159dup (TARDBP) XP_016856354.1:n.*1781-2160_*1781-2159dup
NM_006610.4:c.1421_1422dup (MASP2) MANE Select NP_006601.2:p.Asp475MetfsTer6