Canonical Allele Identifier: CA1153469086

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027496C= , CM000663.2:g.11027496C=	GRCh38
NC_000001.10:g.11087553C= , CM000663.1:g.11087553C=	GRCh37
NC_000001.9:g.11010140C=	NCBI36
NG_007289.1:g.24733G=
NG_007289.2:g.24733G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.389G= (MASP2)
ENST00000699958.1:c.1345G= (MASP2)	ENSP00000514717.1:p.Ala449=
ENST00000700088.1:c.1298-648G= (MASP2)	ENSP00000514787.1:n.1298-648G=
ENST00000700089.1:c.1447G= (MASP2)	ENSP00000514788.1:n.1447G=
ENST00000700090.1:c.1329G= (MASP2)	ENSP00000514789.1:n.1329G=
ENST00000700091.1:c.1252G= (MASP2)	ENSP00000514790.1:p.Ala418=
ENST00000700092.1:c.1429G= (MASP2)	ENSP00000514791.1:p.Ala477=
ENST00000700093.1:c.1426G= (MASP2)	ENSP00000514792.1:p.Ala476=
ENST00000700094.1:c.1458G= (MASP2)	ENSP00000514793.1:n.1458G=
ENST00000700095.1:c.1298-648G= (MASP2)	ENSP00000514794.1:n.1298-648G=
ENST00000700096.1:c.1101-648G= (MASP2)	ENSP00000514795.1:n.1101-648G=
ENST00000700097.1:c.1478G= (MASP2)	ENSP00000514796.1:n.1478G=
ENST00000400897.8:c.1450G= (MASP2) MANE Select	ENSP00000383690.3:p.Ala484=
ENST00000400897.7:c.1450G= (MASP2)	ENSP00000383690.3:p.Ala484=
ENST00000611136.4:c.448+2288C=
ENST00000612542.1:c.206+2288C=
ENST00000614757.4:c.*452+2288C=	ENSP00000481867.1:n.*452+2288C=
ENST00000620028.1:n.416+2288C=
ENST00000622108.1:c.232-2191C=	ENSP00000480398.1:n.232-2191C=
NM_006610.3:c.1450G= (MASP2)	NP_006601.2:p.Ala484=
XM_017000863.2:c.*3011+1831C= (TARDBP)	XP_016856352.1:n.*3011+1831C=
XM_017000864.2:c.*1895+1831C= (TARDBP)	XP_016856353.1:n.*1895+1831C=
XM_017000865.2:c.*1781-2191C= (TARDBP)	XP_016856354.1:n.*1781-2191C=
NM_006610.4:c.1450G= (MASP2) MANE Select	NP_006601.2:p.Ala484=