Canonical Allele Identifier: CA1153469198

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027582_11027585delinsTCAC , CM000663.2:g.11027582_11027585delinsTCAC	GRCh38
NC_000001.10:g.11087639_11087642delinsTCAC , CM000663.1:g.11087639_11087642delinsTCAC	GRCh37
NC_000001.9:g.11010226_11010229delinsTCAC	NCBI36
NG_007289.1:g.24644_24647delinsGTGA
NG_007289.2:g.24644_24647delinsGTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.300_303delinsGTGA (MASP2)
ENST00000699958.1:c.1256_1259delinsGTGA (MASP2)	ENSP00000514717.1:p.Gly419=
ENST00000700088.1:c.1298-737_1298-734delinsGTGA (MASP2)	ENSP00000514787.1:n.1298-737_1298-734delinsGTGA
ENST00000700089.1:c.1358_1361delinsGTGA (MASP2)	ENSP00000514788.1:n.1358_1361delinsGTGA
ENST00000700090.1:c.1240_1243delinsGTGA (MASP2)	ENSP00000514789.1:n.1240_1243delinsGTGA
ENST00000700091.1:c.1163_1166delinsGTGA (MASP2)	ENSP00000514790.1:p.Gly388=
ENST00000700092.1:c.1340_1343delinsGTGA (MASP2)	ENSP00000514791.1:p.Gly447=
ENST00000700093.1:c.1337_1340delinsGTGA (MASP2)	ENSP00000514792.1:p.Gly446=
ENST00000700094.1:c.1369_1372delinsGTGA (MASP2)	ENSP00000514793.1:n.1369_1372delinsGTGA
ENST00000700095.1:c.1298-737_1298-734delinsGTGA (MASP2)	ENSP00000514794.1:n.1298-737_1298-734delinsGTGA
ENST00000700096.1:c.1101-737_1101-734delinsGTGA (MASP2)	ENSP00000514795.1:n.1101-737_1101-734delinsGTGA
ENST00000700097.1:c.1389_1392delinsGTGA (MASP2)	ENSP00000514796.1:p.Trp463=
ENST00000400897.8:c.1361_1364delinsGTGA (MASP2) MANE Select	ENSP00000383690.3:p.Gly454=
ENST00000400897.7:c.1361_1364delinsGTGA (MASP2)	ENSP00000383690.3:p.Gly454=
ENST00000611136.4:c.448+2374_448+2377delinsTCAC
ENST00000612542.1:c.206+2374_206+2377delinsTCAC
ENST00000614757.4:c.*452+2374_*452+2377delinsTCAC	ENSP00000481867.1:n.*452+2374_*452+2377delinsTCAC
ENST00000620028.1:n.416+2374_416+2377delinsTCAC
ENST00000622108.1:c.232-2105_232-2102delinsTCAC	ENSP00000480398.1:n.232-2105_232-2102delinsTCAC
NM_006610.3:c.1361_1364delinsGTGA (MASP2)	NP_006601.2:p.Gly454=
XM_017000863.2:c.*3011+1917_*3011+1920delinsTCAC (TARDBP)	XP_016856352.1:n.*3011+1917_*3011+1920delinsTCAC
XM_017000864.2:c.*1895+1917_*1895+1920delinsTCAC (TARDBP)	XP_016856353.1:n.*1895+1917_*1895+1920delinsTCAC
XM_017000865.2:c.*1781-2105_*1781-2102delinsTCAC (TARDBP)	XP_016856354.1:n.*1781-2105_*1781-2102delinsTCAC
NM_006610.4:c.1361_1364delinsGTGA (MASP2) MANE Select	NP_006601.2:p.Gly454=