Canonical Allele Identifier: CA1153469073

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027488A= , CM000663.2:g.11027488A=	GRCh38
NC_000001.10:g.11087545A= , CM000663.1:g.11087545A=	GRCh37
NC_000001.9:g.11010132A=	NCBI36
NG_007289.1:g.24741T=
NG_008734.1:g.19867A= , LRG_659:g.19867A=
NG_007289.2:g.24741T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.397T= (MASP2)
ENST00000699958.1:c.1353T= (MASP2)	ENSP00000514717.1:p.Tyr451=
ENST00000700088.1:c.1298-640T= (MASP2)	ENSP00000514787.1:n.1298-640T=
ENST00000700089.1:c.1455T= (MASP2)	ENSP00000514788.1:n.1455T=
ENST00000700090.1:c.1337T= (MASP2)	ENSP00000514789.1:n.1337T=
ENST00000700091.1:c.1260T= (MASP2)	ENSP00000514790.1:p.Tyr420=
ENST00000700092.1:c.1437T= (MASP2)	ENSP00000514791.1:p.Tyr479=
ENST00000700093.1:c.1434T= (MASP2)	ENSP00000514792.1:p.Tyr478=
ENST00000700094.1:c.1466T= (MASP2)	ENSP00000514793.1:n.1466T=
ENST00000700095.1:c.1298-640T= (MASP2)	ENSP00000514794.1:n.1298-640T=
ENST00000700096.1:c.1101-640T= (MASP2)	ENSP00000514795.1:n.1101-640T=
ENST00000700097.1:c.1486T= (MASP2)	ENSP00000514796.1:n.1486T=
ENST00000400897.8:c.1458T= (MASP2) MANE Select	ENSP00000383690.3:p.Tyr486=
ENST00000400897.7:c.1458T= (MASP2)	ENSP00000383690.3:p.Tyr486=
ENST00000611136.4:c.448+2280A=
ENST00000612542.1:c.206+2280A=
ENST00000614757.4:c.*452+2280A=	ENSP00000481867.1:n.*452+2280A=
ENST00000620028.1:n.416+2280A=
ENST00000622108.1:c.232-2199A=	ENSP00000480398.1:n.232-2199A=
NM_006610.3:c.1458T= (MASP2)	NP_006601.2:p.Tyr486=
XM_017000863.2:c.*3011+1823A= (TARDBP)	XP_016856352.1:n.*3011+1823A=
XM_017000864.2:c.*1895+1823A= (TARDBP)	XP_016856353.1:n.*1895+1823A=
XM_017000865.2:c.*1781-2199A= (TARDBP)	XP_016856354.1:n.*1781-2199A=
NM_006610.4:c.1458T= (MASP2) MANE Select	NP_006601.2:p.Tyr486=