Canonical Allele Identifier: CA2537741648

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027581_11027582insGAAGC , CM000663.2:g.11027581_11027582insGAAGC	GRCh38
NC_000001.10:g.11087638_11087639insGAAGC , CM000663.1:g.11087638_11087639insGAAGC	GRCh37
NC_000001.9:g.11010225_11010226insGAAGC	NCBI36
NG_007289.1:g.24647_24648insGCTTC
NG_007289.2:g.24647_24648insGCTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.303_304insGCTTC (MASP2)
ENST00000699958.1:c.1259_1260insGCTTC (MASP2)	ENSP00000514717.1:p.Asp420GlufsTer9
ENST00000700088.1:c.1298-734_1298-733insGCTTC (MASP2)	ENSP00000514787.1:n.1298-734_1298-733insGCTTC
ENST00000700089.1:c.1361_1362insGCTTC (MASP2)	ENSP00000514788.1:n.1361_1362insGCTTC
ENST00000700090.1:c.1243_1244insGCTTC (MASP2)	ENSP00000514789.1:n.1243_1244insGCTTC
ENST00000700091.1:c.1166_1167insGCTTC (MASP2)	ENSP00000514790.1:p.Asp389GlufsTer9
ENST00000700092.1:c.1343_1344insGCTTC (MASP2)	ENSP00000514791.1:p.Asp448GlufsTer9
ENST00000700093.1:c.1340_1341insGCTTC (MASP2)	ENSP00000514792.1:p.Asp447GlufsTer9
ENST00000700094.1:c.1372_1373insGCTTC (MASP2)	ENSP00000514793.1:n.1372_1373insGCTTC
ENST00000700095.1:c.1298-734_1298-733insGCTTC (MASP2)	ENSP00000514794.1:n.1298-734_1298-733insGCTTC
ENST00000700096.1:c.1101-734_1101-733insGCTTC (MASP2)	ENSP00000514795.1:n.1101-734_1101-733insGCTTC
ENST00000700097.1:c.1392_1393insGCTTC (MASP2)	ENSP00000514796.1:n.1392_1393insGCTTC
ENST00000400897.8:c.1364_1365insGCTTC (MASP2) MANE Select	ENSP00000383690.3:p.Asp455GlufsTer9
ENST00000400897.7:c.1364_1365insGCTTC (MASP2)	ENSP00000383690.3:p.Asp455GlufsTer9
ENST00000611136.4:c.448+2373_448+2374insGAAGC
ENST00000612542.1:c.206+2373_206+2374insGAAGC
ENST00000614757.4:c.*452+2373_*452+2374insGAAGC	ENSP00000481867.1:n.*452+2373_*452+2374insGAAGC
ENST00000620028.1:n.416+2373_416+2374insGAAGC
ENST00000622108.1:c.232-2106_232-2105insGAAGC	ENSP00000480398.1:n.232-2106_232-2105insGAAGC
NM_006610.3:c.1364_1365insGCTTC (MASP2)	NP_006601.2:p.Asp455GlufsTer9
XM_017000863.2:c.*3011+1916_*3011+1917insGAAGC (TARDBP)	XP_016856352.1:n.*3011+1916_*3011+1917insGAAGC
XM_017000864.2:c.*1895+1916_*1895+1917insGAAGC (TARDBP)	XP_016856353.1:n.*1895+1916_*1895+1917insGAAGC
XM_017000865.2:c.*1781-2106_*1781-2105insGAAGC (TARDBP)	XP_016856354.1:n.*1781-2106_*1781-2105insGAAGC
NM_006610.4:c.1364_1365insGCTTC (MASP2) MANE Select	NP_006601.2:p.Asp455GlufsTer9