Canonical Allele Identifier: CA1153469242

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027612A= , CM000663.2:g.11027612A=	GRCh38
NC_000001.10:g.11087669A= , CM000663.1:g.11087669A=	GRCh37
NC_000001.9:g.11010256A=	NCBI36
NG_007289.1:g.24617T=
NG_007289.2:g.24617T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.273T= (MASP2)
ENST00000699958.1:c.1229T= (MASP2)	ENSP00000514717.1:p.Ile410=
ENST00000700088.1:c.1298-764T= (MASP2)	ENSP00000514787.1:n.1298-764T=
ENST00000700089.1:c.1331T= (MASP2)	ENSP00000514788.1:n.1331T=
ENST00000700090.1:c.1213T= (MASP2)	ENSP00000514789.1:n.1213T=
ENST00000700091.1:c.1136T= (MASP2)	ENSP00000514790.1:p.Ile379=
ENST00000700092.1:c.1313T= (MASP2)	ENSP00000514791.1:p.Ile438=
ENST00000700093.1:c.1310T= (MASP2)	ENSP00000514792.1:p.Ile437=
ENST00000700094.1:c.1342T= (MASP2)	ENSP00000514793.1:n.1342T=
ENST00000700095.1:c.1298-764T= (MASP2)	ENSP00000514794.1:n.1298-764T=
ENST00000700096.1:c.1101-764T= (MASP2)	ENSP00000514795.1:n.1101-764T=
ENST00000700097.1:c.1362T= (MASP2)	ENSP00000514796.1:p.Tyr454=
ENST00000400897.8:c.1334T= (MASP2) MANE Select	ENSP00000383690.3:p.Ile445=
ENST00000400897.7:c.1334T= (MASP2)	ENSP00000383690.3:p.Ile445=
ENST00000611136.4:c.448+2404A=
ENST00000612542.1:c.206+2404A=
ENST00000614757.4:c.*452+2404A=	ENSP00000481867.1:n.*452+2404A=
ENST00000620028.1:n.416+2404A=
ENST00000622108.1:c.232-2075A=	ENSP00000480398.1:n.232-2075A=
NM_006610.3:c.1334T= (MASP2)	NP_006601.2:p.Ile445=
XM_017000863.2:c.*3011+1947A= (TARDBP)	XP_016856352.1:n.*3011+1947A=
XM_017000864.2:c.*1895+1947A= (TARDBP)	XP_016856353.1:n.*1895+1947A=
XM_017000865.2:c.*1781-2075A= (TARDBP)	XP_016856354.1:n.*1781-2075A=
NM_006610.4:c.1334T= (MASP2) MANE Select	NP_006601.2:p.Ile445=