Canonical Allele Identifier: CA1153469227

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027605_11027606delinsTC , CM000663.2:g.11027605_11027606delinsTC	GRCh38
NC_000001.10:g.11087662_11087663delinsTC , CM000663.1:g.11087662_11087663delinsTC	GRCh37
NC_000001.9:g.11010249_11010250delinsTC	NCBI36
NG_007289.1:g.24623_24624delinsGA
NG_007289.2:g.24623_24624delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.279_280delinsGA (MASP2)
ENST00000699958.1:c.1235_1236delinsGA (MASP2)	ENSP00000514717.1:p.Gly412=
ENST00000700088.1:c.1298-758_1298-757delinsGA (MASP2)	ENSP00000514787.1:n.1298-758_1298-757delinsGA
ENST00000700089.1:c.1337_1338delinsGA (MASP2)	ENSP00000514788.1:n.1337_1338delinsGA
ENST00000700090.1:c.1219_1220delinsGA (MASP2)	ENSP00000514789.1:n.1219_1220delinsGA
ENST00000700091.1:c.1142_1143delinsGA (MASP2)	ENSP00000514790.1:p.Gly381=
ENST00000700092.1:c.1319_1320delinsGA (MASP2)	ENSP00000514791.1:p.Gly440=
ENST00000700093.1:c.1316_1317delinsGA (MASP2)	ENSP00000514792.1:p.Gly439=
ENST00000700094.1:c.1348_1349delinsGA (MASP2)	ENSP00000514793.1:n.1348_1349delinsGA
ENST00000700095.1:c.1298-758_1298-757delinsGA (MASP2)	ENSP00000514794.1:n.1298-758_1298-757delinsGA
ENST00000700096.1:c.1101-758_1101-757delinsGA (MASP2)	ENSP00000514795.1:n.1101-758_1101-757delinsGA
ENST00000700097.1:c.1368_1369delinsGA (MASP2)	ENSP00000514796.1:p.Trp456=
ENST00000400897.8:c.1340_1341delinsGA (MASP2) MANE Select	ENSP00000383690.3:p.Gly447=
ENST00000400897.7:c.1340_1341delinsGA (MASP2)	ENSP00000383690.3:p.Gly447=
ENST00000611136.4:c.448+2397_448+2398delinsTC
ENST00000612542.1:c.206+2397_206+2398delinsTC
ENST00000614757.4:c.*452+2397_*452+2398delinsTC	ENSP00000481867.1:n.*452+2397_*452+2398delinsTC
ENST00000620028.1:n.416+2397_416+2398delinsTC
ENST00000622108.1:c.232-2082_232-2081delinsTC	ENSP00000480398.1:n.232-2082_232-2081delinsTC
NM_006610.3:c.1340_1341delinsGA (MASP2)	NP_006601.2:p.Gly447=
XM_017000863.2:c.*3011+1940_*3011+1941delinsTC (TARDBP)	XP_016856352.1:n.*3011+1940_*3011+1941delinsTC
XM_017000864.2:c.*1895+1940_*1895+1941delinsTC (TARDBP)	XP_016856353.1:n.*1895+1940_*1895+1941delinsTC
XM_017000865.2:c.*1781-2082_*1781-2081delinsTC (TARDBP)	XP_016856354.1:n.*1781-2082_*1781-2081delinsTC
NM_006610.4:c.1340_1341delinsGA (MASP2) MANE Select	NP_006601.2:p.Gly447=