Canonical Allele Identifier: CA521453439

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1190877811
• gnomAD v2: 1-11087415-CA-C
• gnomAD v4: 1-11027358-CA-C
• MyVariant Identifiers: chr1:g.11087416del (hg19) ; chr1:g.11027359del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027361del , CM000663.2:g.11027361del	GRCh38
NC_000001.10:g.11087418del , CM000663.1:g.11087418del	GRCh37
NC_000001.9:g.11010005del	NCBI36
NG_007289.1:g.24870del
NG_008734.1:g.19740del , LRG_659:g.19740del
NG_007289.2:g.24870del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.526del (MASP2)
ENST00000699958.1:c.1482del (MASP2)	ENSP00000514717.1:p.Phe494LeufsTer5
ENST00000700088.1:c.1298-511del (MASP2)	ENSP00000514787.1:n.1298-511del
ENST00000700089.1:c.1584del (MASP2)	ENSP00000514788.1:n.1584del
ENST00000700090.1:c.1466del (MASP2)	ENSP00000514789.1:n.1466del
ENST00000700091.1:c.1389del (MASP2)	ENSP00000514790.1:p.Phe463LeufsTer5
ENST00000700092.1:c.1566del (MASP2)	ENSP00000514791.1:p.Phe522LeufsTer5
ENST00000700093.1:c.1563del (MASP2)	ENSP00000514792.1:p.Phe521LeufsTer5
ENST00000700094.1:c.1595del (MASP2)	ENSP00000514793.1:n.1595del
ENST00000700095.1:c.1298-511del (MASP2)	ENSP00000514794.1:n.1298-511del
ENST00000700096.1:c.1101-511del (MASP2)	ENSP00000514795.1:n.1101-511del
ENST00000700097.1:c.1615del (MASP2)	ENSP00000514796.1:n.1615del
ENST00000400897.8:c.1587del (MASP2) MANE Select	ENSP00000383690.3:p.Phe529LeufsTer5
ENST00000400897.7:c.1587del (MASP2)	ENSP00000383690.3:p.Phe529LeufsTer5
ENST00000611136.4:c.448+2153del
ENST00000612542.1:c.206+2153del
ENST00000614757.4:c.*452+2153del	ENSP00000481867.1:n.*452+2153del
ENST00000620028.1:n.416+2153del
ENST00000622108.1:c.231+2153del	ENSP00000480398.1:n.231+2153del
NM_006610.3:c.1587del (MASP2)	NP_006601.2:p.Phe529LeufsTer5
XM_017000863.2:c.*3011+1696del (TARDBP)	XP_016856352.1:n.*3011+1696del
XM_017000864.2:c.*1895+1696del (TARDBP)	XP_016856353.1:n.*1895+1696del
XM_017000865.2:c.*1780+2153del (TARDBP)	XP_016856354.1:n.*1780+2153del
NM_006610.4:c.1587del (MASP2) MANE Select	NP_006601.2:p.Phe529LeufsTer5