Canonical Allele Identifier: CA521453537

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1391760681
• gnomAD v2: 1-11087607-TTCCAC-T
• gnomAD v3: 1-11027550-TTCCAC-T
• gnomAD v4: 1-11027550-TTCCAC-T
• MyVariant Identifiers: chr1:g.11087608_11087612del (hg19) ; chr1:g.11027551_11027555del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027551_11027555del , CM000663.2:g.11027551_11027555del	GRCh38
NC_000001.10:g.11087608_11087612del , CM000663.1:g.11087608_11087612del	GRCh37
NC_000001.9:g.11010195_11010199del	NCBI36
NG_007289.1:g.24674_24678del
NG_007289.2:g.24674_24678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.330_334del (MASP2)
ENST00000699958.1:c.1286_1290del (MASP2)	ENSP00000514717.1:p.Gly429AspfsTer10
ENST00000700088.1:c.1298-707_1298-703del (MASP2)	ENSP00000514787.1:n.1298-707_1298-703del
ENST00000700089.1:c.1388_1392del (MASP2)	ENSP00000514788.1:n.1388_1392del
ENST00000700090.1:c.1270_1274del (MASP2)	ENSP00000514789.1:n.1270_1274del
ENST00000700091.1:c.1193_1197del (MASP2)	ENSP00000514790.1:p.Gly398AspfsTer10
ENST00000700092.1:c.1370_1374del (MASP2)	ENSP00000514791.1:p.Gly457AspfsTer10
ENST00000700093.1:c.1367_1371del (MASP2)	ENSP00000514792.1:p.Gly456AspfsTer10
ENST00000700094.1:c.1399_1403del (MASP2)	ENSP00000514793.1:n.1399_1403del
ENST00000700095.1:c.1298-707_1298-703del (MASP2)	ENSP00000514794.1:n.1298-707_1298-703del
ENST00000700096.1:c.1101-707_1101-703del (MASP2)	ENSP00000514795.1:n.1101-707_1101-703del
ENST00000700097.1:c.1419_1423del (MASP2)	ENSP00000514796.1:n.1419_1423del
ENST00000400897.8:c.1391_1395del (MASP2) MANE Select	ENSP00000383690.3:p.Gly464AspfsTer10
ENST00000400897.7:c.1391_1395del (MASP2)	ENSP00000383690.3:p.Gly464AspfsTer10
ENST00000611136.4:c.448+2343_448+2347del
ENST00000612542.1:c.206+2343_206+2347del
ENST00000614757.4:c.*452+2343_*452+2347del	ENSP00000481867.1:n.*452+2343_*452+2347del
ENST00000620028.1:n.416+2343_416+2347del
ENST00000622108.1:c.232-2136_232-2132del	ENSP00000480398.1:n.232-2136_232-2132del
NM_006610.3:c.1391_1395del (MASP2)	NP_006601.2:p.Gly464AspfsTer10
XM_017000863.2:c.*3011+1886_*3011+1890del (TARDBP)	XP_016856352.1:n.*3011+1886_*3011+1890del
XM_017000864.2:c.*1895+1886_*1895+1890del (TARDBP)	XP_016856353.1:n.*1895+1886_*1895+1890del
XM_017000865.2:c.*1781-2136_*1781-2132del (TARDBP)	XP_016856354.1:n.*1781-2136_*1781-2132del
NM_006610.4:c.1391_1395del (MASP2) MANE Select	NP_006601.2:p.Gly464AspfsTer10