Canonical Allele Identifier: CA2643225739

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027430-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027431del , CM000663.2:g.11027431del	GRCh38
NC_000001.10:g.11087488del , CM000663.1:g.11087488del	GRCh37
NC_000001.9:g.11010075del	NCBI36
NG_007289.1:g.24798del
NG_008734.1:g.19810del , LRG_659:g.19810del
NG_007289.2:g.24798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.454del (MASP2)
ENST00000699958.1:c.1410del (MASP2)	ENSP00000514717.1:p.Ser471HisfsTer28
ENST00000700088.1:c.1298-583del (MASP2)	ENSP00000514787.1:n.1298-583del
ENST00000700089.1:c.1512del (MASP2)	ENSP00000514788.1:n.1512del
ENST00000700090.1:c.1394del (MASP2)	ENSP00000514789.1:n.1394del
ENST00000700091.1:c.1317del (MASP2)	ENSP00000514790.1:p.Ser440HisfsTer28
ENST00000700092.1:c.1494del (MASP2)	ENSP00000514791.1:p.Ser499HisfsTer28
ENST00000700093.1:c.1491del (MASP2)	ENSP00000514792.1:p.Ser498HisfsTer28
ENST00000700094.1:c.1523del (MASP2)	ENSP00000514793.1:n.1523del
ENST00000700095.1:c.1298-583del (MASP2)	ENSP00000514794.1:n.1298-583del
ENST00000700096.1:c.1101-583del (MASP2)	ENSP00000514795.1:n.1101-583del
ENST00000700097.1:c.1543del (MASP2)	ENSP00000514796.1:n.1543del
ENST00000400897.8:c.1515del (MASP2) MANE Select	ENSP00000383690.3:p.Ser506HisfsTer28
ENST00000400897.7:c.1515del (MASP2)	ENSP00000383690.3:p.Ser506HisfsTer28
ENST00000611136.4:c.448+2223del
ENST00000612542.1:c.206+2223del
ENST00000614757.4:c.*452+2223del	ENSP00000481867.1:n.*452+2223del
ENST00000620028.1:n.416+2223del
ENST00000622108.1:c.231+2223del	ENSP00000480398.1:n.231+2223del
NM_006610.3:c.1515del (MASP2)	NP_006601.2:p.Ser506HisfsTer28
XM_017000863.2:c.*3011+1766del (TARDBP)	XP_016856352.1:n.*3011+1766del
XM_017000864.2:c.*1895+1766del (TARDBP)	XP_016856353.1:n.*1895+1766del
XM_017000865.2:c.*1780+2223del (TARDBP)	XP_016856354.1:n.*1780+2223del
NM_006610.4:c.1515del (MASP2) MANE Select	NP_006601.2:p.Ser506HisfsTer28