Canonical Allele Identifier: CA1153469177

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027559A= , CM000663.2:g.11027559A=	GRCh38
NC_000001.10:g.11087616A= , CM000663.1:g.11087616A=	GRCh37
NC_000001.9:g.11010203A=	NCBI36
NG_007289.1:g.24670T=
NG_007289.2:g.24670T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.326T= (MASP2)
ENST00000699958.1:c.1282T= (MASP2)	ENSP00000514717.1:p.Leu428=
ENST00000700088.1:c.1298-711T= (MASP2)	ENSP00000514787.1:n.1298-711T=
ENST00000700089.1:c.1384T= (MASP2)	ENSP00000514788.1:n.1384T=
ENST00000700090.1:c.1266T= (MASP2)	ENSP00000514789.1:n.1266T=
ENST00000700091.1:c.1189T= (MASP2)	ENSP00000514790.1:p.Leu397=
ENST00000700092.1:c.1366T= (MASP2)	ENSP00000514791.1:p.Leu456=
ENST00000700093.1:c.1363T= (MASP2)	ENSP00000514792.1:p.Leu455=
ENST00000700094.1:c.1395T= (MASP2)	ENSP00000514793.1:n.1395T=
ENST00000700095.1:c.1298-711T= (MASP2)	ENSP00000514794.1:n.1298-711T=
ENST00000700096.1:c.1101-711T= (MASP2)	ENSP00000514795.1:n.1101-711T=
ENST00000700097.1:c.1415T= (MASP2)	ENSP00000514796.1:n.1415T=
ENST00000400897.8:c.1387T= (MASP2) MANE Select	ENSP00000383690.3:p.Leu463=
ENST00000400897.7:c.1387T= (MASP2)	ENSP00000383690.3:p.Leu463=
ENST00000611136.4:c.448+2351A=
ENST00000612542.1:c.206+2351A=
ENST00000614757.4:c.*452+2351A=	ENSP00000481867.1:n.*452+2351A=
ENST00000620028.1:n.416+2351A=
ENST00000622108.1:c.232-2128A=	ENSP00000480398.1:n.232-2128A=
NM_006610.3:c.1387T= (MASP2)	NP_006601.2:p.Leu463=
XM_017000863.2:c.*3011+1894A= (TARDBP)	XP_016856352.1:n.*3011+1894A=
XM_017000864.2:c.*1895+1894A= (TARDBP)	XP_016856353.1:n.*1895+1894A=
XM_017000865.2:c.*1781-2128A= (TARDBP)	XP_016856354.1:n.*1781-2128A=
NM_006610.4:c.1387T= (MASP2) MANE Select	NP_006601.2:p.Leu463=