Canonical Allele Identifier: CA998560415

Gene: MASP2 TARDBP

Linked Data

• gnomAD v3: 1-11027435-CTTTTCAGGGT-C
• gnomAD v4: 1-11027435-CTTTTCAGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027436_11027445del , CM000663.2:g.11027436_11027445del	GRCh38
NC_000001.10:g.11087493_11087502del , CM000663.1:g.11087493_11087502del	GRCh37
NC_000001.9:g.11010080_11010089del	NCBI36
NG_007289.1:g.24784_24793del
NG_008734.1:g.19815_19824del , LRG_659:g.19815_19824del
NG_007289.2:g.24784_24793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.440_449del (MASP2)
ENST00000699958.1:c.1396_1405del (MASP2)	ENSP00000514717.1:p.Thr466AspfsTer30
ENST00000700088.1:c.1298-597_1298-588del (MASP2)	ENSP00000514787.1:n.1298-597_1298-588del
ENST00000700089.1:c.1498_1507del (MASP2)	ENSP00000514788.1:n.1498_1507del
ENST00000700090.1:c.1380_1389del (MASP2)	ENSP00000514789.1:n.1380_1389del
ENST00000700091.1:c.1303_1312del (MASP2)	ENSP00000514790.1:p.Thr435AspfsTer30
ENST00000700092.1:c.1480_1489del (MASP2)	ENSP00000514791.1:p.Thr494AspfsTer30
ENST00000700093.1:c.1477_1486del (MASP2)	ENSP00000514792.1:p.Thr493AspfsTer30
ENST00000700094.1:c.1509_1518del (MASP2)	ENSP00000514793.1:n.1509_1518del
ENST00000700095.1:c.1298-597_1298-588del (MASP2)	ENSP00000514794.1:n.1298-597_1298-588del
ENST00000700096.1:c.1101-597_1101-588del (MASP2)	ENSP00000514795.1:n.1101-597_1101-588del
ENST00000700097.1:c.1529_1538del (MASP2)	ENSP00000514796.1:n.1529_1538del
ENST00000400897.8:c.1501_1510del (MASP2) MANE Select	ENSP00000383690.3:p.Thr501AspfsTer30
ENST00000400897.7:c.1501_1510del (MASP2)	ENSP00000383690.3:p.Thr501AspfsTer30
ENST00000611136.4:c.448+2228_448+2237del
ENST00000612542.1:c.206+2228_206+2237del
ENST00000614757.4:c.*452+2228_*452+2237del	ENSP00000481867.1:n.*452+2228_*452+2237del
ENST00000620028.1:n.416+2228_416+2237del
ENST00000622108.1:c.231+2228_231+2237del	ENSP00000480398.1:n.231+2228_231+2237del
NM_006610.3:c.1501_1510del (MASP2)	NP_006601.2:p.Thr501AspfsTer30
XM_017000863.2:c.*3011+1771_*3011+1780del (TARDBP)	XP_016856352.1:n.*3011+1771_*3011+1780del
XM_017000864.2:c.*1895+1771_*1895+1780del (TARDBP)	XP_016856353.1:n.*1895+1771_*1895+1780del
XM_017000865.2:c.*1780+2228_*1780+2237del (TARDBP)	XP_016856354.1:n.*1780+2228_*1780+2237del
NM_006610.4:c.1501_1510del (MASP2) MANE Select	NP_006601.2:p.Thr501AspfsTer30