Canonical Allele Identifier: CA1153469121

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027523_11027525delinsCAT , CM000663.2:g.11027523_11027525delinsCAT	GRCh38
NC_000001.10:g.11087580_11087582delinsCAT , CM000663.1:g.11087580_11087582delinsCAT	GRCh37
NC_000001.9:g.11010167_11010169delinsCAT	NCBI36
NG_007289.1:g.24704_24706delinsATG
NG_007289.2:g.24704_24706delinsATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.360_362delinsATG (MASP2)
ENST00000699958.1:c.1316_1318delinsATG (MASP2)	ENSP00000514717.1:p.Tyr439=
ENST00000700088.1:c.1298-677_1298-675delinsATG (MASP2)	ENSP00000514787.1:n.1298-677_1298-675delinsATG
ENST00000700089.1:c.1418_1420delinsATG (MASP2)	ENSP00000514788.1:n.1418_1420delinsATG
ENST00000700090.1:c.1300_1302delinsATG (MASP2)	ENSP00000514789.1:n.1300_1302delinsATG
ENST00000700091.1:c.1223_1225delinsATG (MASP2)	ENSP00000514790.1:p.Tyr408=
ENST00000700092.1:c.1400_1402delinsATG (MASP2)	ENSP00000514791.1:p.Tyr467=
ENST00000700093.1:c.1397_1399delinsATG (MASP2)	ENSP00000514792.1:p.Tyr466=
ENST00000700094.1:c.1429_1431delinsATG (MASP2)	ENSP00000514793.1:n.1429_1431delinsATG
ENST00000700095.1:c.1298-677_1298-675delinsATG (MASP2)	ENSP00000514794.1:n.1298-677_1298-675delinsATG
ENST00000700096.1:c.1101-677_1101-675delinsATG (MASP2)	ENSP00000514795.1:n.1101-677_1101-675delinsATG
ENST00000700097.1:c.1449_1451delinsATG (MASP2)	ENSP00000514796.1:n.1449_1451delinsATG
ENST00000400897.8:c.1421_1423delinsATG (MASP2) MANE Select	ENSP00000383690.3:p.Tyr474=
ENST00000400897.7:c.1421_1423delinsATG (MASP2)	ENSP00000383690.3:p.Tyr474=
ENST00000611136.4:c.448+2315_448+2317delinsCAT
ENST00000612542.1:c.206+2315_206+2317delinsCAT
ENST00000614757.4:c.*452+2315_*452+2317delinsCAT	ENSP00000481867.1:n.*452+2315_*452+2317delinsCAT
ENST00000620028.1:n.416+2315_416+2317delinsCAT
ENST00000622108.1:c.232-2164_232-2162delinsCAT	ENSP00000480398.1:n.232-2164_232-2162delinsCAT
NM_006610.3:c.1421_1423delinsATG (MASP2)	NP_006601.2:p.Tyr474=
XM_017000863.2:c.*3011+1858_*3011+1860delinsCAT (TARDBP)	XP_016856352.1:n.*3011+1858_*3011+1860delinsCAT
XM_017000864.2:c.*1895+1858_*1895+1860delinsCAT (TARDBP)	XP_016856353.1:n.*1895+1858_*1895+1860delinsCAT
XM_017000865.2:c.*1781-2164_*1781-2162delinsCAT (TARDBP)	XP_016856354.1:n.*1781-2164_*1781-2162delinsCAT
NM_006610.4:c.1421_1423delinsATG (MASP2) MANE Select	NP_006601.2:p.Tyr474=