Canonical Allele Identifier: CA2742458561

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027585_11027586insACACCCAACA , CM000663.2:g.11027585_11027586insACACCCAACA	GRCh38
NC_000001.10:g.11087642_11087643insACACCCAACA , CM000663.1:g.11087642_11087643insACACCCAACA	GRCh37
NC_000001.9:g.11010229_11010230insACACCCAACA	NCBI36
NG_007289.1:g.24643_24644insTGTTGGGTGT
NG_007289.2:g.24643_24644insTGTTGGGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.299_300insTGTTGGGTGT (MASP2)
ENST00000699958.1:c.1255_1256insTGTTGGGTGT (MASP2)	ENSP00000514717.1:p.Gly419ValfsTer5
ENST00000700088.1:c.1298-738_1298-737insTGTTGGGTGT (MASP2)	ENSP00000514787.1:n.1298-738_1298-737insTGTTGGGTGT
ENST00000700089.1:c.1357_1358insTGTTGGGTGT (MASP2)	ENSP00000514788.1:n.1357_1358insTGTTGGGTGT
ENST00000700090.1:c.1239_1240insTGTTGGGTGT (MASP2)	ENSP00000514789.1:n.1239_1240insTGTTGGGTGT
ENST00000700091.1:c.1162_1163insTGTTGGGTGT (MASP2)	ENSP00000514790.1:p.Gly388ValfsTer5
ENST00000700092.1:c.1339_1340insTGTTGGGTGT (MASP2)	ENSP00000514791.1:p.Gly447ValfsTer5
ENST00000700093.1:c.1336_1337insTGTTGGGTGT (MASP2)	ENSP00000514792.1:p.Gly446ValfsTer5
ENST00000700094.1:c.1368_1369insTGTTGGGTGT (MASP2)	ENSP00000514793.1:n.1368_1369insTGTTGGGTGT
ENST00000700095.1:c.1298-738_1298-737insTGTTGGGTGT (MASP2)	ENSP00000514794.1:n.1298-738_1298-737insTGTTGGGTGT
ENST00000700096.1:c.1101-738_1101-737insTGTTGGGTGT (MASP2)	ENSP00000514795.1:n.1101-738_1101-737insTGTTGGGTGT
ENST00000700097.1:c.1388_1389insTGTTGGGTGT (MASP2)	ENSP00000514796.1:p.Trp463CysfsTer12
ENST00000400897.8:c.1360_1361insTGTTGGGTGT (MASP2) MANE Select	ENSP00000383690.3:p.Gly454ValfsTer5
ENST00000400897.7:c.1360_1361insTGTTGGGTGT (MASP2)	ENSP00000383690.3:p.Gly454ValfsTer5
ENST00000611136.4:c.448+2377_448+2378insACACCCAACA
ENST00000612542.1:c.206+2377_206+2378insACACCCAACA
ENST00000614757.4:c.*452+2377_*452+2378insACACCCAACA	ENSP00000481867.1:n.*452+2377_*452+2378insACACCCAACA
ENST00000620028.1:n.416+2377_416+2378insACACCCAACA
ENST00000622108.1:c.232-2102_232-2101insACACCCAACA	ENSP00000480398.1:n.232-2102_232-2101insACACCCAACA
NM_006610.3:c.1360_1361insTGTTGGGTGT (MASP2)	NP_006601.2:p.Gly454ValfsTer5
XM_017000863.2:c.*3011+1920_*3011+1921insACACCCAACA (TARDBP)	XP_016856352.1:n.*3011+1920_*3011+1921insACACCCAACA
XM_017000864.2:c.*1895+1920_*1895+1921insACACCCAACA (TARDBP)	XP_016856353.1:n.*1895+1920_*1895+1921insACACCCAACA
XM_017000865.2:c.*1781-2102_*1781-2101insACACCCAACA (TARDBP)	XP_016856354.1:n.*1781-2102_*1781-2101insACACCCAACA
NM_006610.4:c.1360_1361insTGTTGGGTGT (MASP2) MANE Select	NP_006601.2:p.Gly454ValfsTer5