Canonical Allele Identifier: CA1144930283

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027311A= , CM000663.2:g.11027311A=	GRCh38
NC_000001.10:g.11087368A= , CM000663.1:g.11087368A=	GRCh37
NC_000001.9:g.11009955A=	NCBI36
NG_007289.1:g.24918T=
NG_008734.1:g.19690A= , LRG_659:g.19690A=
NG_007289.2:g.24918T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.574T= (MASP2)
ENST00000699958.1:c.1530T= (MASP2)	ENSP00000514717.1:p.Asn510=
ENST00000700088.1:c.1298-463T= (MASP2)	ENSP00000514787.1:n.1298-463T=
ENST00000700089.1:c.1632T= (MASP2)	ENSP00000514788.1:n.1632T=
ENST00000700090.1:c.1514T= (MASP2)	ENSP00000514789.1:n.1514T=
ENST00000700091.1:c.1437T= (MASP2)	ENSP00000514790.1:p.Asn479=
ENST00000700092.1:c.1614T= (MASP2)	ENSP00000514791.1:p.Asn538=
ENST00000700093.1:c.1611T= (MASP2)	ENSP00000514792.1:p.Asn537=
ENST00000700094.1:c.1643T= (MASP2)	ENSP00000514793.1:n.1643T=
ENST00000700095.1:c.1298-463T= (MASP2)	ENSP00000514794.1:n.1298-463T=
ENST00000700096.1:c.1101-463T= (MASP2)	ENSP00000514795.1:n.1101-463T=
ENST00000400897.8:c.1635T= (MASP2) MANE Select	ENSP00000383690.3:p.Asn545=
ENST00000400897.7:c.1635T= (MASP2)	ENSP00000383690.3:p.Asn545=
ENST00000611136.4:c.448+2103A=
ENST00000612542.1:c.206+2103A=
ENST00000614757.4:c.*452+2103A=	ENSP00000481867.1:n.*452+2103A=
ENST00000620028.1:n.416+2103A=
ENST00000622108.1:c.231+2103A=	ENSP00000480398.1:n.231+2103A=
NM_006610.3:c.1635T= (MASP2)	NP_006601.2:p.Asn545=
XM_017000863.2:c.*3011+1646A= (TARDBP)	XP_016856352.1:n.*3011+1646A=
XM_017000864.2:c.*1895+1646A= (TARDBP)	XP_016856353.1:n.*1895+1646A=
XM_017000865.2:c.*1780+2103A= (TARDBP)	XP_016856354.1:n.*1780+2103A=
NM_006610.4:c.1635T= (MASP2) MANE Select	NP_006601.2:p.Asn545=