Canonical Allele Identifier: CA2643225776

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027506-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027507_11027508insGG , CM000663.2:g.11027507_11027508insGG	GRCh38
NC_000001.10:g.11087564_11087565insGG , CM000663.1:g.11087564_11087565insGG	GRCh37
NC_000001.9:g.11010151_11010152insGG	NCBI36
NG_007289.1:g.24722_24723insCC
NG_007289.2:g.24722_24723insCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.378_379insCC (MASP2)
ENST00000699958.1:c.1334_1335insCC (MASP2)	ENSP00000514717.1:p.Ala446GlnfsTer23
ENST00000700088.1:c.1298-659_1298-658insCC (MASP2)	ENSP00000514787.1:n.1298-659_1298-658insCC
ENST00000700089.1:c.1436_1437insCC (MASP2)	ENSP00000514788.1:n.1436_1437insCC
ENST00000700090.1:c.1318_1319insCC (MASP2)	ENSP00000514789.1:n.1318_1319insCC
ENST00000700091.1:c.1241_1242insCC (MASP2)	ENSP00000514790.1:p.Ala415GlnfsTer23
ENST00000700092.1:c.1418_1419insCC (MASP2)	ENSP00000514791.1:p.Ala474GlnfsTer23
ENST00000700093.1:c.1415_1416insCC (MASP2)	ENSP00000514792.1:p.Ala473GlnfsTer23
ENST00000700094.1:c.1447_1448insCC (MASP2)	ENSP00000514793.1:n.1447_1448insCC
ENST00000700095.1:c.1298-659_1298-658insCC (MASP2)	ENSP00000514794.1:n.1298-659_1298-658insCC
ENST00000700096.1:c.1101-659_1101-658insCC (MASP2)	ENSP00000514795.1:n.1101-659_1101-658insCC
ENST00000700097.1:c.1467_1468insCC (MASP2)	ENSP00000514796.1:n.1467_1468insCC
ENST00000400897.8:c.1439_1440insCC (MASP2) MANE Select	ENSP00000383690.3:p.Ala481GlnfsTer23
ENST00000400897.7:c.1439_1440insCC (MASP2)	ENSP00000383690.3:p.Ala481GlnfsTer23
ENST00000611136.4:c.448+2299_448+2300insGG
ENST00000612542.1:c.206+2299_206+2300insGG
ENST00000614757.4:c.*452+2299_*452+2300insGG	ENSP00000481867.1:n.*452+2299_*452+2300insGG
ENST00000620028.1:n.416+2299_416+2300insGG
ENST00000622108.1:c.232-2180_232-2179insGG	ENSP00000480398.1:n.232-2180_232-2179insGG
NM_006610.3:c.1439_1440insCC (MASP2)	NP_006601.2:p.Ala481GlnfsTer23
XM_017000863.2:c.*3011+1842_*3011+1843insGG (TARDBP)	XP_016856352.1:n.*3011+1842_*3011+1843insGG
XM_017000864.2:c.*1895+1842_*1895+1843insGG (TARDBP)	XP_016856353.1:n.*1895+1842_*1895+1843insGG
XM_017000865.2:c.*1781-2180_*1781-2179insGG (TARDBP)	XP_016856354.1:n.*1781-2180_*1781-2179insGG
NM_006610.4:c.1439_1440insCC (MASP2) MANE Select	NP_006601.2:p.Ala481GlnfsTer23