Canonical Allele Identifier: CA1148306612

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027519T= , CM000663.2:g.11027519T=	GRCh38
NC_000001.10:g.11087576T= , CM000663.1:g.11087576T=	GRCh37
NC_000001.9:g.11010163T=	NCBI36
NG_007289.1:g.24710A=
NG_007289.2:g.24710A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.366A= (MASP2)
ENST00000699958.1:c.1322A= (MASP2)	ENSP00000514717.1:p.Asn441=
ENST00000700088.1:c.1298-671A= (MASP2)	ENSP00000514787.1:n.1298-671A=
ENST00000700089.1:c.1424A= (MASP2)	ENSP00000514788.1:n.1424A=
ENST00000700090.1:c.1306A= (MASP2)	ENSP00000514789.1:n.1306A=
ENST00000700091.1:c.1229A= (MASP2)	ENSP00000514790.1:p.Asn410=
ENST00000700092.1:c.1406A= (MASP2)	ENSP00000514791.1:p.Asn469=
ENST00000700093.1:c.1403A= (MASP2)	ENSP00000514792.1:p.Asn468=
ENST00000700094.1:c.1435A= (MASP2)	ENSP00000514793.1:n.1435A=
ENST00000700095.1:c.1298-671A= (MASP2)	ENSP00000514794.1:n.1298-671A=
ENST00000700096.1:c.1101-671A= (MASP2)	ENSP00000514795.1:n.1101-671A=
ENST00000700097.1:c.1455A= (MASP2)	ENSP00000514796.1:n.1455A=
ENST00000400897.8:c.1427A= (MASP2) MANE Select	ENSP00000383690.3:p.Asn476=
ENST00000400897.7:c.1427A= (MASP2)	ENSP00000383690.3:p.Asn476=
ENST00000611136.4:c.448+2311T=
ENST00000612542.1:c.206+2311T=
ENST00000614757.4:c.*452+2311T=	ENSP00000481867.1:n.*452+2311T=
ENST00000620028.1:n.416+2311T=
ENST00000622108.1:c.232-2168T=	ENSP00000480398.1:n.232-2168T=
NM_006610.3:c.1427A= (MASP2)	NP_006601.2:p.Asn476=
XM_017000863.2:c.*3011+1854T= (TARDBP)	XP_016856352.1:n.*3011+1854T=
XM_017000864.2:c.*1895+1854T= (TARDBP)	XP_016856353.1:n.*1895+1854T=
XM_017000865.2:c.*1781-2168T= (TARDBP)	XP_016856354.1:n.*1781-2168T=
NM_006610.4:c.1427A= (MASP2) MANE Select	NP_006601.2:p.Asn476=