Canonical Allele Identifier: CA2643225752

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027456-ATGTCCAGGGCGGATGCATCATGTTTTTGCTCATAGACGGCATGAGCAGCTGTTAGGACCCAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027461_11027523del , CM000663.2:g.11027461_11027523del	GRCh38
NC_000001.10:g.11087518_11087580del , CM000663.1:g.11087518_11087580del	GRCh37
NC_000001.9:g.11010105_11010167del	NCBI36
NG_007289.1:g.24710_24772del
NG_007289.2:g.24710_24772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.366_428del (MASP2)
ENST00000699958.1:c.1322_1384del (MASP2)	ENSP00000514717.1:p.Asn441_Asp461del
ENST00000700088.1:c.1298-671_1298-609del (MASP2)	ENSP00000514787.1:n.1298-671_1298-609del
ENST00000700089.1:c.1424_1486del (MASP2)	ENSP00000514788.1:n.1424_1486del
ENST00000700090.1:c.1306_1368del (MASP2)	ENSP00000514789.1:n.1306_1368del
ENST00000700091.1:c.1229_1291del (MASP2)	ENSP00000514790.1:p.Asn410_Asp430del
ENST00000700092.1:c.1406_1468del (MASP2)	ENSP00000514791.1:p.Asn469_Asp489del
ENST00000700093.1:c.1403_1465del (MASP2)	ENSP00000514792.1:p.Asn468_Asp488del
ENST00000700094.1:c.1435_1497del (MASP2)	ENSP00000514793.1:n.1435_1497del
ENST00000700095.1:c.1298-671_1298-609del (MASP2)	ENSP00000514794.1:n.1298-671_1298-609del
ENST00000700096.1:c.1101-671_1101-609del (MASP2)	ENSP00000514795.1:n.1101-671_1101-609del
ENST00000700097.1:c.1455_1517del (MASP2)	ENSP00000514796.1:n.1455_1517del
ENST00000400897.8:c.1427_1489del (MASP2) MANE Select	ENSP00000383690.3:p.Asn476_Asp496del
ENST00000400897.7:c.1427_1489del (MASP2)	ENSP00000383690.3:p.Asn476_Asp496del
ENST00000611136.4:c.448+2253_448+2315del
ENST00000612542.1:c.206+2253_206+2315del
ENST00000614757.4:c.*452+2253_*452+2315del	ENSP00000481867.1:n.*452+2253_*452+2315del
ENST00000620028.1:n.416+2253_416+2315del
ENST00000622108.1:c.232-2226_232-2164del	ENSP00000480398.1:n.232-2226_232-2164del
NM_006610.3:c.1427_1489del (MASP2)	NP_006601.2:p.Asn476_Asp496del
XM_017000863.2:c.*3011+1796_*3011+1858del (TARDBP)	XP_016856352.1:n.*3011+1796_*3011+1858del
XM_017000864.2:c.*1895+1796_*1895+1858del (TARDBP)	XP_016856353.1:n.*1895+1796_*1895+1858del
XM_017000865.2:c.*1781-2226_*1781-2164del (TARDBP)	XP_016856354.1:n.*1781-2226_*1781-2164del
NM_006610.4:c.1427_1489del (MASP2) MANE Select	NP_006601.2:p.Asn476_Asp496del