Canonical Allele Identifier: CA1153469014
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11027458G= , CM000663.2:g.11027458G= GRCh38
NC_000001.10:g.11087515G= , CM000663.1:g.11087515G= GRCh37
NC_000001.9:g.11010102G= NCBI36
NG_007289.1:g.24771C=
NG_008734.1:g.19837G= , LRG_659:g.19837G=
NG_007289.2:g.24771C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699927.1:n.427C= (MASP2)
ENST00000699958.1:c.1383C= (MASP2) ENSP00000514717.1:p.Asp461=
ENST00000700088.1:c.1298-610C= (MASP2) ENSP00000514787.1:n.1298-610C=
ENST00000700089.1:c.1485C= (MASP2) ENSP00000514788.1:n.1485C=
ENST00000700090.1:c.1367C= (MASP2) ENSP00000514789.1:n.1367C=
ENST00000700091.1:c.1290C= (MASP2) ENSP00000514790.1:p.Asp430=
ENST00000700092.1:c.1467C= (MASP2) ENSP00000514791.1:p.Asp489=
ENST00000700093.1:c.1464C= (MASP2) ENSP00000514792.1:p.Asp488=
ENST00000700094.1:c.1496C= (MASP2) ENSP00000514793.1:n.1496C=
ENST00000700095.1:c.1298-610C= (MASP2) ENSP00000514794.1:n.1298-610C=
ENST00000700096.1:c.1101-610C= (MASP2) ENSP00000514795.1:n.1101-610C=
ENST00000700097.1:c.1516C= (MASP2) ENSP00000514796.1:n.1516C=
ENST00000400897.8:c.1488C= (MASP2) MANE Select ENSP00000383690.3:p.Asp496=
ENST00000400897.7:c.1488C= (MASP2) ENSP00000383690.3:p.Asp496=
ENST00000611136.4:c.448+2250G=
ENST00000612542.1:c.206+2250G=
ENST00000614757.4:c.*452+2250G= ENSP00000481867.1:n.*452+2250G=
ENST00000620028.1:n.416+2250G=
ENST00000622108.1:c.232-2229G= ENSP00000480398.1:n.232-2229G=
NM_006610.3:c.1488C= (MASP2) NP_006601.2:p.Asp496=
XM_017000863.2:c.*3011+1793G= (TARDBP) XP_016856352.1:n.*3011+1793G=
XM_017000864.2:c.*1895+1793G= (TARDBP) XP_016856353.1:n.*1895+1793G=
XM_017000865.2:c.*1781-2229G= (TARDBP) XP_016856354.1:n.*1781-2229G=
NM_006610.4:c.1488C= (MASP2) MANE Select NP_006601.2:p.Asp496=