Canonical Allele Identifier: CA2574209730

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027473del , CM000663.2:g.11027473del	GRCh38
NC_000001.10:g.11087530del , CM000663.1:g.11087530del	GRCh37
NC_000001.9:g.11010117del	NCBI36
NG_007289.1:g.24756del
NG_008734.1:g.19852del , LRG_659:g.19852del
NG_007289.2:g.24756del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.412del (MASP2)
ENST00000699958.1:c.1368del (MASP2)	ENSP00000514717.1:p.Asp456GlufsTer12
ENST00000700088.1:c.1298-625del (MASP2)	ENSP00000514787.1:n.1298-625del
ENST00000700089.1:c.1470del (MASP2)	ENSP00000514788.1:n.1470del
ENST00000700090.1:c.1352del (MASP2)	ENSP00000514789.1:n.1352del
ENST00000700091.1:c.1275del (MASP2)	ENSP00000514790.1:p.Asp425GlufsTer12
ENST00000700092.1:c.1452del (MASP2)	ENSP00000514791.1:p.Asp484GlufsTer12
ENST00000700093.1:c.1449del (MASP2)	ENSP00000514792.1:p.Asp483GlufsTer12
ENST00000700094.1:c.1481del (MASP2)	ENSP00000514793.1:n.1481del
ENST00000700095.1:c.1298-625del (MASP2)	ENSP00000514794.1:n.1298-625del
ENST00000700096.1:c.1101-625del (MASP2)	ENSP00000514795.1:n.1101-625del
ENST00000700097.1:c.1501del (MASP2)	ENSP00000514796.1:n.1501del
ENST00000400897.8:c.1473del (MASP2) MANE Select	ENSP00000383690.3:p.Asp491GlufsTer12
ENST00000400897.7:c.1473del (MASP2)	ENSP00000383690.3:p.Asp491GlufsTer12
ENST00000611136.4:c.448+2265del
ENST00000612542.1:c.206+2265del
ENST00000614757.4:c.*452+2265del	ENSP00000481867.1:n.*452+2265del
ENST00000620028.1:n.416+2265del
ENST00000622108.1:c.232-2214del	ENSP00000480398.1:n.232-2214del
NM_006610.3:c.1473del (MASP2)	NP_006601.2:p.Asp491GlufsTer12
XM_017000863.2:c.*3011+1808del (TARDBP)	XP_016856352.1:n.*3011+1808del
XM_017000864.2:c.*1895+1808del (TARDBP)	XP_016856353.1:n.*1895+1808del
XM_017000865.2:c.*1781-2214del (TARDBP)	XP_016856354.1:n.*1781-2214del
NM_006610.4:c.1473del (MASP2) MANE Select	NP_006601.2:p.Asp491GlufsTer12