Canonical Allele Identifier: CA998560424

Gene: MASP2 TARDBP

Linked Data

• gnomAD v3: 1-11027448-C-CGTAT
• gnomAD v4: 1-11027448-C-CGTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027448_11027449insGTAT , CM000663.2:g.11027448_11027449insGTAT	GRCh38
NC_000001.10:g.11087505_11087506insGTAT , CM000663.1:g.11087505_11087506insGTAT	GRCh37
NC_000001.9:g.11010092_11010093insGTAT	NCBI36
NG_007289.1:g.24780_24781insATAC
NG_008734.1:g.19827_19828insGTAT , LRG_659:g.19827_19828insGTAT
NG_007289.2:g.24780_24781insATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.436_437insATAC (MASP2)
ENST00000699958.1:c.1392_1393insATAC (MASP2)	ENSP00000514717.1:p.Gly465IlefsTer17
ENST00000700088.1:c.1298-601_1298-600insATAC (MASP2)	ENSP00000514787.1:n.1298-601_1298-600insATAC
ENST00000700089.1:c.1494_1495insATAC (MASP2)	ENSP00000514788.1:n.1494_1495insATAC
ENST00000700090.1:c.1376_1377insATAC (MASP2)	ENSP00000514789.1:n.1376_1377insATAC
ENST00000700091.1:c.1299_1300insATAC (MASP2)	ENSP00000514790.1:p.Gly434IlefsTer17
ENST00000700092.1:c.1476_1477insATAC (MASP2)	ENSP00000514791.1:p.Gly493IlefsTer17
ENST00000700093.1:c.1473_1474insATAC (MASP2)	ENSP00000514792.1:p.Gly492IlefsTer17
ENST00000700094.1:c.1505_1506insATAC (MASP2)	ENSP00000514793.1:n.1505_1506insATAC
ENST00000700095.1:c.1298-601_1298-600insATAC (MASP2)	ENSP00000514794.1:n.1298-601_1298-600insATAC
ENST00000700096.1:c.1101-601_1101-600insATAC (MASP2)	ENSP00000514795.1:n.1101-601_1101-600insATAC
ENST00000700097.1:c.1525_1526insATAC (MASP2)	ENSP00000514796.1:n.1525_1526insATAC
ENST00000400897.8:c.1497_1498insATAC (MASP2) MANE Select	ENSP00000383690.3:p.Gly500IlefsTer17
ENST00000400897.7:c.1497_1498insATAC (MASP2)	ENSP00000383690.3:p.Gly500IlefsTer17
ENST00000611136.4:c.448+2240_448+2241insGTAT
ENST00000612542.1:c.206+2240_206+2241insGTAT
ENST00000614757.4:c.*452+2240_*452+2241insGTAT	ENSP00000481867.1:n.*452+2240_*452+2241insGTAT
ENST00000620028.1:n.416+2240_416+2241insGTAT
ENST00000622108.1:c.232-2239_232-2238insGTAT	ENSP00000480398.1:n.232-2239_232-2238insGTAT
NM_006610.3:c.1497_1498insATAC (MASP2)	NP_006601.2:p.Gly500IlefsTer17
XM_017000863.2:c.*3011+1783_*3011+1784insGTAT (TARDBP)	XP_016856352.1:n.*3011+1783_*3011+1784insGTAT
XM_017000864.2:c.*1895+1783_*1895+1784insGTAT (TARDBP)	XP_016856353.1:n.*1895+1783_*1895+1784insGTAT
XM_017000865.2:c.*1781-2239_*1781-2238insGTAT (TARDBP)	XP_016856354.1:n.*1781-2239_*1781-2238insGTAT
NM_006610.4:c.1497_1498insATAC (MASP2) MANE Select	NP_006601.2:p.Gly500IlefsTer17