Canonical Allele Identifier: CA1153469112

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027516_11027517delinsCA , CM000663.2:g.11027516_11027517delinsCA	GRCh38
NC_000001.10:g.11087573_11087574delinsCA , CM000663.1:g.11087573_11087574delinsCA	GRCh37
NC_000001.9:g.11010160_11010161delinsCA	NCBI36
NG_007289.1:g.24712_24713delinsTG
NG_007289.2:g.24712_24713delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.368_369delinsTG (MASP2)
ENST00000699958.1:c.1324_1325delinsTG (MASP2)	ENSP00000514717.1:p.Trp442=
ENST00000700088.1:c.1298-669_1298-668delinsTG (MASP2)	ENSP00000514787.1:n.1298-669_1298-668delinsTG
ENST00000700089.1:c.1426_1427delinsTG (MASP2)	ENSP00000514788.1:n.1426_1427delinsTG
ENST00000700090.1:c.1308_1309delinsTG (MASP2)	ENSP00000514789.1:n.1308_1309delinsTG
ENST00000700091.1:c.1231_1232delinsTG (MASP2)	ENSP00000514790.1:p.Trp411=
ENST00000700092.1:c.1408_1409delinsTG (MASP2)	ENSP00000514791.1:p.Trp470=
ENST00000700093.1:c.1405_1406delinsTG (MASP2)	ENSP00000514792.1:p.Trp469=
ENST00000700094.1:c.1437_1438delinsTG (MASP2)	ENSP00000514793.1:n.1437_1438delinsTG
ENST00000700095.1:c.1298-669_1298-668delinsTG (MASP2)	ENSP00000514794.1:n.1298-669_1298-668delinsTG
ENST00000700096.1:c.1101-669_1101-668delinsTG (MASP2)	ENSP00000514795.1:n.1101-669_1101-668delinsTG
ENST00000700097.1:c.1457_1458delinsTG (MASP2)	ENSP00000514796.1:n.1457_1458delinsTG
ENST00000400897.8:c.1429_1430delinsTG (MASP2) MANE Select	ENSP00000383690.3:p.Trp477=
ENST00000400897.7:c.1429_1430delinsTG (MASP2)	ENSP00000383690.3:p.Trp477=
ENST00000611136.4:c.448+2308_448+2309delinsCA
ENST00000612542.1:c.206+2308_206+2309delinsCA
ENST00000614757.4:c.*452+2308_*452+2309delinsCA	ENSP00000481867.1:n.*452+2308_*452+2309delinsCA
ENST00000620028.1:n.416+2308_416+2309delinsCA
ENST00000622108.1:c.232-2171_232-2170delinsCA	ENSP00000480398.1:n.232-2171_232-2170delinsCA
NM_006610.3:c.1429_1430delinsTG (MASP2)	NP_006601.2:p.Trp477=
XM_017000863.2:c.*3011+1851_*3011+1852delinsCA (TARDBP)	XP_016856352.1:n.*3011+1851_*3011+1852delinsCA
XM_017000864.2:c.*1895+1851_*1895+1852delinsCA (TARDBP)	XP_016856353.1:n.*1895+1851_*1895+1852delinsCA
XM_017000865.2:c.*1781-2171_*1781-2170delinsCA (TARDBP)	XP_016856354.1:n.*1781-2171_*1781-2170delinsCA
NM_006610.4:c.1429_1430delinsTG (MASP2) MANE Select	NP_006601.2:p.Trp477=