Canonical Allele Identifier: CA2643225848

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027561-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027562del , CM000663.2:g.11027562del	GRCh38
NC_000001.10:g.11087619del , CM000663.1:g.11087619del	GRCh37
NC_000001.9:g.11010206del	NCBI36
NG_007289.1:g.24667del
NG_007289.2:g.24667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.323del (MASP2)
ENST00000699958.1:c.1279del (MASP2)	ENSP00000514717.1:p.Ile427TyrfsTer2
ENST00000700088.1:c.1298-714del (MASP2)	ENSP00000514787.1:n.1298-714del
ENST00000700089.1:c.1381del (MASP2)	ENSP00000514788.1:n.1381del
ENST00000700090.1:c.1263del (MASP2)	ENSP00000514789.1:n.1263del
ENST00000700091.1:c.1186del (MASP2)	ENSP00000514790.1:p.Ile396TyrfsTer2
ENST00000700092.1:c.1363del (MASP2)	ENSP00000514791.1:p.Ile455TyrfsTer2
ENST00000700093.1:c.1360del (MASP2)	ENSP00000514792.1:p.Ile454TyrfsTer2
ENST00000700094.1:c.1392del (MASP2)	ENSP00000514793.1:n.1392del
ENST00000700095.1:c.1298-714del (MASP2)	ENSP00000514794.1:n.1298-714del
ENST00000700096.1:c.1101-714del (MASP2)	ENSP00000514795.1:n.1101-714del
ENST00000700097.1:c.1412del (MASP2)	ENSP00000514796.1:n.1412del
ENST00000400897.8:c.1384del (MASP2) MANE Select	ENSP00000383690.3:p.Ile462TyrfsTer2
ENST00000400897.7:c.1384del (MASP2)	ENSP00000383690.3:p.Ile462TyrfsTer2
ENST00000611136.4:c.448+2354del
ENST00000612542.1:c.206+2354del
ENST00000614757.4:c.*452+2354del	ENSP00000481867.1:n.*452+2354del
ENST00000620028.1:n.416+2354del
ENST00000622108.1:c.232-2125del	ENSP00000480398.1:n.232-2125del
NM_006610.3:c.1384del (MASP2)	NP_006601.2:p.Ile462TyrfsTer2
XM_017000863.2:c.*3011+1897del (TARDBP)	XP_016856352.1:n.*3011+1897del
XM_017000864.2:c.*1895+1897del (TARDBP)	XP_016856353.1:n.*1895+1897del
XM_017000865.2:c.*1781-2125del (TARDBP)	XP_016856354.1:n.*1781-2125del
NM_006610.4:c.1384del (MASP2) MANE Select	NP_006601.2:p.Ile462TyrfsTer2