Canonical Allele Identifier: CA1153469019

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027465_11027474delinsGCGGATGCAT , CM000663.2:g.11027465_11027474delinsGCGGATGCAT	GRCh38
NC_000001.10:g.11087522_11087531delinsGCGGATGCAT , CM000663.1:g.11087522_11087531delinsGCGGATGCAT	GRCh37
NC_000001.9:g.11010109_11010118delinsGCGGATGCAT	NCBI36
NG_007289.1:g.24755_24764delinsATGCATCCGC
NG_008734.1:g.19844_19853delinsGCGGATGCAT , LRG_659:g.19844_19853delinsGCGGATGCAT
NG_007289.2:g.24755_24764delinsATGCATCCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.411_420delinsATGCATCCGC (MASP2)
ENST00000699958.1:c.1367_1376delinsATGCATCCGC (MASP2)	ENSP00000514717.1:p.Asp456=
ENST00000700088.1:c.1298-626_1298-617delinsATGCATCCGC (MASP2)	ENSP00000514787.1:n.1298-626_1298-617delinsATGCATCCGC
ENST00000700089.1:c.1469_1478delinsATGCATCCGC (MASP2)	ENSP00000514788.1:n.1469_1478delinsATGCATCCGC
ENST00000700090.1:c.1351_1360delinsATGCATCCGC (MASP2)	ENSP00000514789.1:n.1351_1360delinsATGCATCCGC
ENST00000700091.1:c.1274_1283delinsATGCATCCGC (MASP2)	ENSP00000514790.1:p.Asp425=
ENST00000700092.1:c.1451_1460delinsATGCATCCGC (MASP2)	ENSP00000514791.1:p.Asp484=
ENST00000700093.1:c.1448_1457delinsATGCATCCGC (MASP2)	ENSP00000514792.1:p.Asp483=
ENST00000700094.1:c.1480_1489delinsATGCATCCGC (MASP2)	ENSP00000514793.1:n.1480_1489delinsATGCATCCGC
ENST00000700095.1:c.1298-626_1298-617delinsATGCATCCGC (MASP2)	ENSP00000514794.1:n.1298-626_1298-617delinsATGCATCCGC
ENST00000700096.1:c.1101-626_1101-617delinsATGCATCCGC (MASP2)	ENSP00000514795.1:n.1101-626_1101-617delinsATGCATCCGC
ENST00000700097.1:c.1500_1509delinsATGCATCCGC (MASP2)	ENSP00000514796.1:n.1500_1509delinsATGCATCCGC
ENST00000400897.8:c.1472_1481delinsATGCATCCGC (MASP2) MANE Select	ENSP00000383690.3:p.Asp491=
ENST00000400897.7:c.1472_1481delinsATGCATCCGC (MASP2)	ENSP00000383690.3:p.Asp491=
ENST00000611136.4:c.448+2257_448+2266delinsGCGGATGCAT
ENST00000612542.1:c.206+2257_206+2266delinsGCGGATGCAT
ENST00000614757.4:c.*452+2257_*452+2266delinsGCGGATGCAT	ENSP00000481867.1:n.*452+2257_*452+2266delinsGCGGATGCAT
ENST00000620028.1:n.416+2257_416+2266delinsGCGGATGCAT
ENST00000622108.1:c.232-2222_232-2213delinsGCGGATGCAT	ENSP00000480398.1:n.232-2222_232-2213delinsGCGGATGCAT
NM_006610.3:c.1472_1481delinsATGCATCCGC (MASP2)	NP_006601.2:p.Asp491=
XM_017000863.2:c.*3011+1800_*3011+1809delinsGCGGATGCAT (TARDBP)	XP_016856352.1:n.*3011+1800_*3011+1809delinsGCGGATGCAT
XM_017000864.2:c.*1895+1800_*1895+1809delinsGCGGATGCAT (TARDBP)	XP_016856353.1:n.*1895+1800_*1895+1809delinsGCGGATGCAT
XM_017000865.2:c.*1781-2222_*1781-2213delinsGCGGATGCAT (TARDBP)	XP_016856354.1:n.*1781-2222_*1781-2213delinsGCGGATGCAT
NM_006610.4:c.1472_1481delinsATGCATCCGC (MASP2) MANE Select	NP_006601.2:p.Asp491=