Canonical Allele Identifier: CA2643225738

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027427-G-GTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027428_11027429insCT , CM000663.2:g.11027428_11027429insCT	GRCh38
NC_000001.10:g.11087485_11087486insCT , CM000663.1:g.11087485_11087486insCT	GRCh37
NC_000001.9:g.11010072_11010073insCT	NCBI36
NG_007289.1:g.24801_24802insGA
NG_008734.1:g.19807_19808insCT , LRG_659:g.19807_19808insCT
NG_007289.2:g.24801_24802insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.457_458insGA (MASP2)
ENST00000699958.1:c.1413_1414insGA (MASP2)	ENSP00000514717.1:p.Pro472AspfsTer28
ENST00000700088.1:c.1298-580_1298-579insGA (MASP2)	ENSP00000514787.1:n.1298-580_1298-579insGA
ENST00000700089.1:c.1515_1516insGA (MASP2)	ENSP00000514788.1:n.1515_1516insGA
ENST00000700090.1:c.1397_1398insGA (MASP2)	ENSP00000514789.1:n.1397_1398insGA
ENST00000700091.1:c.1320_1321insGA (MASP2)	ENSP00000514790.1:p.Pro441AspfsTer28
ENST00000700092.1:c.1497_1498insGA (MASP2)	ENSP00000514791.1:p.Pro500AspfsTer28
ENST00000700093.1:c.1494_1495insGA (MASP2)	ENSP00000514792.1:p.Pro499AspfsTer28
ENST00000700094.1:c.1526_1527insGA (MASP2)	ENSP00000514793.1:n.1526_1527insGA
ENST00000700095.1:c.1298-580_1298-579insGA (MASP2)	ENSP00000514794.1:n.1298-580_1298-579insGA
ENST00000700096.1:c.1101-580_1101-579insGA (MASP2)	ENSP00000514795.1:n.1101-580_1101-579insGA
ENST00000700097.1:c.1546_1547insGA (MASP2)	ENSP00000514796.1:n.1546_1547insGA
ENST00000400897.8:c.1518_1519insGA (MASP2) MANE Select	ENSP00000383690.3:p.Pro507AspfsTer28
ENST00000400897.7:c.1518_1519insGA (MASP2)	ENSP00000383690.3:p.Pro507AspfsTer28
ENST00000611136.4:c.448+2220_448+2221insCT
ENST00000612542.1:c.206+2220_206+2221insCT
ENST00000614757.4:c.*452+2220_*452+2221insCT	ENSP00000481867.1:n.*452+2220_*452+2221insCT
ENST00000620028.1:n.416+2220_416+2221insCT
ENST00000622108.1:c.231+2220_231+2221insCT	ENSP00000480398.1:n.231+2220_231+2221insCT
NM_006610.3:c.1518_1519insGA (MASP2)	NP_006601.2:p.Pro507AspfsTer28
XM_017000863.2:c.*3011+1763_*3011+1764insCT (TARDBP)	XP_016856352.1:n.*3011+1763_*3011+1764insCT
XM_017000864.2:c.*1895+1763_*1895+1764insCT (TARDBP)	XP_016856353.1:n.*1895+1763_*1895+1764insCT
XM_017000865.2:c.*1780+2220_*1780+2221insCT (TARDBP)	XP_016856354.1:n.*1780+2220_*1780+2221insCT
NM_006610.4:c.1518_1519insGA (MASP2) MANE Select	NP_006601.2:p.Pro507AspfsTer28