Canonical Allele Identifier: CA885396488

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1281445684
• MyVariant Identifiers: chr1:g.11087664_11087665insA (hg19) ; chr1:g.11027607_11027608insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027608dup , CM000663.2:g.11027608dup	GRCh38
NC_000001.10:g.11087665dup , CM000663.1:g.11087665dup	GRCh37
NC_000001.9:g.11010252dup	NCBI36
NG_007289.1:g.24621dup
NG_007289.2:g.24621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.277dup (MASP2)
ENST00000699958.1:c.1233dup (MASP2)	ENSP00000514717.1:p.Gly412TrpfsTer9
ENST00000700088.1:c.1298-760dup (MASP2)	ENSP00000514787.1:n.1298-760dup
ENST00000700089.1:c.1335dup (MASP2)	ENSP00000514788.1:n.1335dup
ENST00000700090.1:c.1217dup (MASP2)	ENSP00000514789.1:n.1217dup
ENST00000700091.1:c.1140dup (MASP2)	ENSP00000514790.1:p.Gly381TrpfsTer9
ENST00000700092.1:c.1317dup (MASP2)	ENSP00000514791.1:p.Gly440TrpfsTer9
ENST00000700093.1:c.1314dup (MASP2)	ENSP00000514792.1:p.Gly439TrpfsTer9
ENST00000700094.1:c.1346dup (MASP2)	ENSP00000514793.1:n.1346dup
ENST00000700095.1:c.1298-760dup (MASP2)	ENSP00000514794.1:n.1298-760dup
ENST00000700096.1:c.1101-760dup (MASP2)	ENSP00000514795.1:n.1101-760dup
ENST00000700097.1:c.1366dup (MASP2)	ENSP00000514796.1:p.Trp456LeufsTer16
ENST00000400897.8:c.1338dup (MASP2) MANE Select	ENSP00000383690.3:p.Gly447TrpfsTer9
ENST00000400897.7:c.1338dup (MASP2)	ENSP00000383690.3:p.Gly447TrpfsTer9
ENST00000611136.4:c.448+2400dup
ENST00000612542.1:c.206+2400dup
ENST00000614757.4:c.*452+2400dup	ENSP00000481867.1:n.*452+2400dup
ENST00000620028.1:n.416+2400dup
ENST00000622108.1:c.232-2079dup	ENSP00000480398.1:n.232-2079dup
NM_006610.3:c.1338dup (MASP2)	NP_006601.2:p.Gly447TrpfsTer9
XM_017000863.2:c.*3011+1943dup (TARDBP)	XP_016856352.1:n.*3011+1943dup
XM_017000864.2:c.*1895+1943dup (TARDBP)	XP_016856353.1:n.*1895+1943dup
XM_017000865.2:c.*1781-2079dup (TARDBP)	XP_016856354.1:n.*1781-2079dup
NM_006610.4:c.1338dup (MASP2) MANE Select	NP_006601.2:p.Gly447TrpfsTer9