Canonical Allele Identifier: CA586685
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Linked Data

dbSNP Id: rs778598737
gnomAD v2: 1-11087661-C-G
gnomAD v4: 1-11027604-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11027604C>G , CM000663.2:g.11027604C>G GRCh38
NC_000001.10:g.11087661C>G , CM000663.1:g.11087661C>G GRCh37
NC_000001.9:g.11010248C>G NCBI36
NG_007289.1:g.24625G>C
NG_007289.2:g.24625G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699927.1:n.281G>C (MASP2)
ENST00000699958.1:c.1237G>C (MASP2) ENSP00000514717.1:p.Gly413Arg
ENST00000700088.1:c.1298-756G>C (MASP2) ENSP00000514787.1:n.1298-756G>C
ENST00000700089.1:c.1339G>C (MASP2) ENSP00000514788.1:n.1339G>C
ENST00000700090.1:c.1221G>C (MASP2) ENSP00000514789.1:n.1221G>C
ENST00000700091.1:c.1144G>C (MASP2) ENSP00000514790.1:p.Gly382Arg
ENST00000700092.1:c.1321G>C (MASP2) ENSP00000514791.1:p.Gly441Arg
ENST00000700093.1:c.1318G>C (MASP2) ENSP00000514792.1:p.Gly440Arg
ENST00000700094.1:c.1350G>C (MASP2) ENSP00000514793.1:n.1350G>C
ENST00000700095.1:c.1298-756G>C (MASP2) ENSP00000514794.1:n.1298-756G>C
ENST00000700096.1:c.1101-756G>C (MASP2) ENSP00000514795.1:n.1101-756G>C
ENST00000700097.1:c.1370G>C (MASP2) ENSP00000514796.1:p.Arg457Thr
ENST00000400897.8:c.1342G>C (MASP2) MANE Select ENSP00000383690.3:p.Gly448Arg
ENST00000400897.7:c.1342G>C (MASP2) ENSP00000383690.3:p.Gly448Arg
ENST00000611136.4:c.448+2396C>G
ENST00000612542.1:c.206+2396C>G
ENST00000614757.4:c.*452+2396C>G ENSP00000481867.1:n.*452+2396C>G
ENST00000620028.1:n.416+2396C>G
ENST00000622108.1:c.232-2083C>G ENSP00000480398.1:n.232-2083C>G
NM_006610.3:c.1342G>C (MASP2) NP_006601.2:p.Gly448Arg
XM_017000863.2:c.*3011+1939C>G (TARDBP) XP_016856352.1:n.*3011+1939C>G
XM_017000864.2:c.*1895+1939C>G (TARDBP) XP_016856353.1:n.*1895+1939C>G
XM_017000865.2:c.*1781-2083C>G (TARDBP) XP_016856354.1:n.*1781-2083C>G
NM_006610.4:c.1342G>C (MASP2) MANE Select NP_006601.2:p.Gly448Arg