Canonical Allele Identifier: CA885396178

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1450278220
• gnomAD v3: 1-11027468-GATGCATC-G
• gnomAD v4: 1-11027468-GATGCATC-G
• MyVariant Identifiers: chr1:g.11087526_11087532del (hg19) ; chr1:g.11027469_11027475del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027472_11027478del , CM000663.2:g.11027472_11027478del	GRCh38
NC_000001.10:g.11087529_11087535del , CM000663.1:g.11087529_11087535del	GRCh37
NC_000001.9:g.11010116_11010122del	NCBI36
NG_007289.1:g.24754_24760del
NG_008734.1:g.19851_19857del , LRG_659:g.19851_19857del
NG_007289.2:g.24754_24760del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.410_416del (MASP2)
ENST00000699958.1:c.1366_1372del (MASP2)	ENSP00000514717.1:p.Asp456ProfsTer10
ENST00000700088.1:c.1298-627_1298-621del (MASP2)	ENSP00000514787.1:n.1298-627_1298-621del
ENST00000700089.1:c.1468_1474del (MASP2)	ENSP00000514788.1:n.1468_1474del
ENST00000700090.1:c.1350_1356del (MASP2)	ENSP00000514789.1:n.1350_1356del
ENST00000700091.1:c.1273_1279del (MASP2)	ENSP00000514790.1:p.Asp425ProfsTer10
ENST00000700092.1:c.1450_1456del (MASP2)	ENSP00000514791.1:p.Asp484ProfsTer10
ENST00000700093.1:c.1447_1453del (MASP2)	ENSP00000514792.1:p.Asp483ProfsTer10
ENST00000700094.1:c.1479_1485del (MASP2)	ENSP00000514793.1:n.1479_1485del
ENST00000700095.1:c.1298-627_1298-621del (MASP2)	ENSP00000514794.1:n.1298-627_1298-621del
ENST00000700096.1:c.1101-627_1101-621del (MASP2)	ENSP00000514795.1:n.1101-627_1101-621del
ENST00000700097.1:c.1499_1505del (MASP2)	ENSP00000514796.1:n.1499_1505del
ENST00000400897.8:c.1471_1477del (MASP2) MANE Select	ENSP00000383690.3:p.Asp491ProfsTer10
ENST00000400897.7:c.1471_1477del (MASP2)	ENSP00000383690.3:p.Asp491ProfsTer10
ENST00000611136.4:c.448+2264_448+2270del
ENST00000612542.1:c.206+2264_206+2270del
ENST00000614757.4:c.*452+2264_*452+2270del	ENSP00000481867.1:n.*452+2264_*452+2270del
ENST00000620028.1:n.416+2264_416+2270del
ENST00000622108.1:c.232-2215_232-2209del	ENSP00000480398.1:n.232-2215_232-2209del
NM_006610.3:c.1471_1477del (MASP2)	NP_006601.2:p.Asp491ProfsTer10
XM_017000863.2:c.*3011+1807_*3011+1813del (TARDBP)	XP_016856352.1:n.*3011+1807_*3011+1813del
XM_017000864.2:c.*1895+1807_*1895+1813del (TARDBP)	XP_016856353.1:n.*1895+1807_*1895+1813del
XM_017000865.2:c.*1781-2215_*1781-2209del (TARDBP)	XP_016856354.1:n.*1781-2215_*1781-2209del
NM_006610.4:c.1471_1477del (MASP2) MANE Select	NP_006601.2:p.Asp491ProfsTer10