Canonical Allele Identifier: CA1153469039

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027468_11027475delinsGATGCATC , CM000663.2:g.11027468_11027475delinsGATGCATC	GRCh38
NC_000001.10:g.11087525_11087532delinsGATGCATC , CM000663.1:g.11087525_11087532delinsGATGCATC	GRCh37
NC_000001.9:g.11010112_11010119delinsGATGCATC	NCBI36
NG_007289.1:g.24754_24761delinsGATGCATC
NG_008734.1:g.19847_19854delinsGATGCATC , LRG_659:g.19847_19854delinsGATGCATC
NG_007289.2:g.24754_24761delinsGATGCATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.410_417delinsGATGCATC (MASP2)
ENST00000699958.1:c.1366_1373delinsGATGCATC (MASP2)	ENSP00000514717.1:p.Asp456=
ENST00000700088.1:c.1298-627_1298-620delinsGATGCATC (MASP2)	ENSP00000514787.1:n.1298-627_1298-620delinsGATGCATC
ENST00000700089.1:c.1468_1475delinsGATGCATC (MASP2)	ENSP00000514788.1:n.1468_1475delinsGATGCATC
ENST00000700090.1:c.1350_1357delinsGATGCATC (MASP2)	ENSP00000514789.1:n.1350_1357delinsGATGCATC
ENST00000700091.1:c.1273_1280delinsGATGCATC (MASP2)	ENSP00000514790.1:p.Asp425=
ENST00000700092.1:c.1450_1457delinsGATGCATC (MASP2)	ENSP00000514791.1:p.Asp484=
ENST00000700093.1:c.1447_1454delinsGATGCATC (MASP2)	ENSP00000514792.1:p.Asp483=
ENST00000700094.1:c.1479_1486delinsGATGCATC (MASP2)	ENSP00000514793.1:n.1479_1486delinsGATGCATC
ENST00000700095.1:c.1298-627_1298-620delinsGATGCATC (MASP2)	ENSP00000514794.1:n.1298-627_1298-620delinsGATGCATC
ENST00000700096.1:c.1101-627_1101-620delinsGATGCATC (MASP2)	ENSP00000514795.1:n.1101-627_1101-620delinsGATGCATC
ENST00000700097.1:c.1499_1506delinsGATGCATC (MASP2)	ENSP00000514796.1:n.1499_1506delinsGATGCATC
ENST00000400897.8:c.1471_1478delinsGATGCATC (MASP2) MANE Select	ENSP00000383690.3:p.Asp491=
ENST00000400897.7:c.1471_1478delinsGATGCATC (MASP2)	ENSP00000383690.3:p.Asp491=
ENST00000611136.4:c.448+2260_448+2267delinsGATGCATC
ENST00000612542.1:c.206+2260_206+2267delinsGATGCATC
ENST00000614757.4:c.*452+2260_*452+2267delinsGATGCATC	ENSP00000481867.1:n.*452+2260_*452+2267delinsGATGCATC
ENST00000620028.1:n.416+2260_416+2267delinsGATGCATC
ENST00000622108.1:c.232-2219_232-2212delinsGATGCATC	ENSP00000480398.1:n.232-2219_232-2212delinsGATGCATC
NM_006610.3:c.1471_1478delinsGATGCATC (MASP2)	NP_006601.2:p.Asp491=
XM_017000863.2:c.*3011+1803_*3011+1810delinsGATGCATC (TARDBP)	XP_016856352.1:n.*3011+1803_*3011+1810delinsGATGCATC
XM_017000864.2:c.*1895+1803_*1895+1810delinsGATGCATC (TARDBP)	XP_016856353.1:n.*1895+1803_*1895+1810delinsGATGCATC
XM_017000865.2:c.*1781-2219_*1781-2212delinsGATGCATC (TARDBP)	XP_016856354.1:n.*1781-2219_*1781-2212delinsGATGCATC
NM_006610.4:c.1471_1478delinsGATGCATC (MASP2) MANE Select	NP_006601.2:p.Asp491=