Canonical Allele Identifier: CA1153468945

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027397C= , CM000663.2:g.11027397C=	GRCh38
NC_000001.10:g.11087454C= , CM000663.1:g.11087454C=	GRCh37
NC_000001.9:g.11010041C=	NCBI36
NG_007289.1:g.24832G=
NG_008734.1:g.19776C= , LRG_659:g.19776C=
NG_007289.2:g.24832G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.488G= (MASP2)
ENST00000699958.1:c.1444G= (MASP2)	ENSP00000514717.1:p.Val482=
ENST00000700088.1:c.1298-549G= (MASP2)	ENSP00000514787.1:n.1298-549G=
ENST00000700089.1:c.1546G= (MASP2)	ENSP00000514788.1:n.1546G=
ENST00000700090.1:c.1428G= (MASP2)	ENSP00000514789.1:n.1428G=
ENST00000700091.1:c.1351G= (MASP2)	ENSP00000514790.1:p.Val451=
ENST00000700092.1:c.1528G= (MASP2)	ENSP00000514791.1:p.Val510=
ENST00000700093.1:c.1525G= (MASP2)	ENSP00000514792.1:p.Val509=
ENST00000700094.1:c.1557G= (MASP2)	ENSP00000514793.1:n.1557G=
ENST00000700095.1:c.1298-549G= (MASP2)	ENSP00000514794.1:n.1298-549G=
ENST00000700096.1:c.1101-549G= (MASP2)	ENSP00000514795.1:n.1101-549G=
ENST00000700097.1:c.1577G= (MASP2)	ENSP00000514796.1:n.1577G=
ENST00000400897.8:c.1549G= (MASP2) MANE Select	ENSP00000383690.3:p.Val517=
ENST00000400897.7:c.1549G= (MASP2)	ENSP00000383690.3:p.Val517=
ENST00000611136.4:c.448+2189C=
ENST00000612542.1:c.206+2189C=
ENST00000614757.4:c.*452+2189C=	ENSP00000481867.1:n.*452+2189C=
ENST00000620028.1:n.416+2189C=
ENST00000622108.1:c.231+2189C=	ENSP00000480398.1:n.231+2189C=
NM_006610.3:c.1549G= (MASP2)	NP_006601.2:p.Val517=
XM_017000863.2:c.*3011+1732C= (TARDBP)	XP_016856352.1:n.*3011+1732C=
XM_017000864.2:c.*1895+1732C= (TARDBP)	XP_016856353.1:n.*1895+1732C=
XM_017000865.2:c.*1780+2189C= (TARDBP)	XP_016856354.1:n.*1780+2189C=
NM_006610.4:c.1549G= (MASP2) MANE Select	NP_006601.2:p.Val517=