Canonical Allele Identifier: CA2742458560

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027584_11027585insAA , CM000663.2:g.11027584_11027585insAA	GRCh38
NC_000001.10:g.11087641_11087642insAA , CM000663.1:g.11087641_11087642insAA	GRCh37
NC_000001.9:g.11010228_11010229insAA	NCBI36
NG_007289.1:g.24645_24646insTT
NG_007289.2:g.24645_24646insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.301_302insTT (MASP2)
ENST00000699958.1:c.1257_1258insTT (MASP2)	ENSP00000514717.1:p.Asp420LeufsTer8
ENST00000700088.1:c.1298-736_1298-735insTT (MASP2)	ENSP00000514787.1:n.1298-736_1298-735insTT
ENST00000700089.1:c.1359_1360insTT (MASP2)	ENSP00000514788.1:n.1359_1360insTT
ENST00000700090.1:c.1241_1242insTT (MASP2)	ENSP00000514789.1:n.1241_1242insTT
ENST00000700091.1:c.1164_1165insTT (MASP2)	ENSP00000514790.1:p.Asp389LeufsTer8
ENST00000700092.1:c.1341_1342insTT (MASP2)	ENSP00000514791.1:p.Asp448LeufsTer8
ENST00000700093.1:c.1338_1339insTT (MASP2)	ENSP00000514792.1:p.Asp447LeufsTer8
ENST00000700094.1:c.1370_1371insTT (MASP2)	ENSP00000514793.1:n.1370_1371insTT
ENST00000700095.1:c.1298-736_1298-735insTT (MASP2)	ENSP00000514794.1:n.1298-736_1298-735insTT
ENST00000700096.1:c.1101-736_1101-735insTT (MASP2)	ENSP00000514795.1:n.1101-736_1101-735insTT
ENST00000700097.1:c.1390_1391insTT (MASP2)	ENSP00000514796.1:p.Ter464PheextTer?
ENST00000400897.8:c.1362_1363insTT (MASP2) MANE Select	ENSP00000383690.3:p.Asp455LeufsTer8
ENST00000400897.7:c.1362_1363insTT (MASP2)	ENSP00000383690.3:p.Asp455LeufsTer8
ENST00000611136.4:c.448+2376_448+2377insAA
ENST00000612542.1:c.206+2376_206+2377insAA
ENST00000614757.4:c.*452+2376_*452+2377insAA	ENSP00000481867.1:n.*452+2376_*452+2377insAA
ENST00000620028.1:n.416+2376_416+2377insAA
ENST00000622108.1:c.232-2103_232-2102insAA	ENSP00000480398.1:n.232-2103_232-2102insAA
NM_006610.3:c.1362_1363insTT (MASP2)	NP_006601.2:p.Asp455LeufsTer8
XM_017000863.2:c.*3011+1919_*3011+1920insAA (TARDBP)	XP_016856352.1:n.*3011+1919_*3011+1920insAA
XM_017000864.2:c.*1895+1919_*1895+1920insAA (TARDBP)	XP_016856353.1:n.*1895+1919_*1895+1920insAA
XM_017000865.2:c.*1781-2103_*1781-2102insAA (TARDBP)	XP_016856354.1:n.*1781-2103_*1781-2102insAA
NM_006610.4:c.1362_1363insTT (MASP2) MANE Select	NP_006601.2:p.Asp455LeufsTer8