Canonical Allele Identifier: CA521453538

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1335306691
• gnomAD v2: 1-11087657-T-TGCCCTCCATATATAC
• gnomAD v3: 1-11027600-T-TGCCCTCCATATATAC
• gnomAD v4: 1-11027600-T-TGCCCTCCATATATAC
• MyVariant Identifiers: chr1:g.11087657_11087658insGCCCTCCATATATAC (hg19) ; chr1:g.11027600_11027601insGCCCTCCATATATAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027608_11027622dup , CM000663.2:g.11027608_11027622dup	GRCh38
NC_000001.10:g.11087665_11087679dup , CM000663.1:g.11087665_11087679dup	GRCh37
NC_000001.9:g.11010252_11010266dup	NCBI36
NG_007289.1:g.24614_24628dup
NG_007289.2:g.24614_24628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.270_284dup (MASP2)
ENST00000699958.1:c.1226_1240dup (MASP2)	ENSP00000514717.1:p.Gly413_Gln414insArgIleTyrGlyGly
ENST00000700088.1:c.1298-767_1298-753dup (MASP2)	ENSP00000514787.1:n.1298-767_1298-753dup
ENST00000700089.1:c.1328_1342dup (MASP2)	ENSP00000514788.1:n.1328_1342dup
ENST00000700090.1:c.1210_1224dup (MASP2)	ENSP00000514789.1:n.1210_1224dup
ENST00000700091.1:c.1133_1147dup (MASP2)	ENSP00000514790.1:p.Gly382_Gln383insArgIleTyrGlyGly
ENST00000700092.1:c.1310_1324dup (MASP2)	ENSP00000514791.1:p.Gly441_Gln442insArgIleTyrGlyGly
ENST00000700093.1:c.1307_1321dup (MASP2)	ENSP00000514792.1:p.Gly440_Gln441insArgIleTyrGlyGly
ENST00000700094.1:c.1339_1353dup (MASP2)	ENSP00000514793.1:n.1339_1353dup
ENST00000700095.1:c.1298-767_1298-753dup (MASP2)	ENSP00000514794.1:n.1298-767_1298-753dup
ENST00000700096.1:c.1101-767_1101-753dup (MASP2)	ENSP00000514795.1:n.1101-767_1101-753dup
ENST00000700097.1:c.1359_1373dup (MASP2)	ENSP00000514796.1:p.Ala458_Lys459insTyrIleTrpArgAla
ENST00000400897.8:c.1331_1345dup (MASP2) MANE Select	ENSP00000383690.3:p.Gly448_Gln449insArgIleTyrGlyGly
ENST00000400897.7:c.1331_1345dup (MASP2)	ENSP00000383690.3:p.Gly448_Gln449insArgIleTyrGlyGly
ENST00000611136.4:c.448+2400_448+2414dup
ENST00000612542.1:c.206+2400_206+2414dup
ENST00000614757.4:c.*452+2400_*452+2414dup	ENSP00000481867.1:n.*452+2400_*452+2414dup
ENST00000620028.1:n.416+2400_416+2414dup
ENST00000622108.1:c.232-2079_232-2065dup	ENSP00000480398.1:n.232-2079_232-2065dup
NM_006610.3:c.1331_1345dup (MASP2)	NP_006601.2:p.Gly448_Gln449insArgIleTyrGlyGly
XM_017000863.2:c.*3011+1943_*3011+1957dup (TARDBP)	XP_016856352.1:n.*3011+1943_*3011+1957dup
XM_017000864.2:c.*1895+1943_*1895+1957dup (TARDBP)	XP_016856353.1:n.*1895+1943_*1895+1957dup
XM_017000865.2:c.*1781-2079_*1781-2065dup (TARDBP)	XP_016856354.1:n.*1781-2079_*1781-2065dup
NM_006610.4:c.1331_1345dup (MASP2) MANE Select	NP_006601.2:p.Gly448_Gln449insArgIleTyrGlyGly