Canonical Allele Identifier: CA2643225735

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027416-TGTATAATGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027418_11027426del , CM000663.2:g.11027418_11027426del	GRCh38
NC_000001.10:g.11087475_11087483del , CM000663.1:g.11087475_11087483del	GRCh37
NC_000001.9:g.11010062_11010070del	NCBI36
NG_007289.1:g.24804_24812del
NG_008734.1:g.19797_19805del , LRG_659:g.19797_19805del
NG_007289.2:g.24804_24812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.460_468del (MASP2)
ENST00000699958.1:c.1416_1424del (MASP2)	ENSP00000514717.1:p.His473_Thr475del
ENST00000700088.1:c.1298-577_1298-569del (MASP2)	ENSP00000514787.1:n.1298-577_1298-569del
ENST00000700089.1:c.1518_1526del (MASP2)	ENSP00000514788.1:n.1518_1526del
ENST00000700090.1:c.1400_1408del (MASP2)	ENSP00000514789.1:n.1400_1408del
ENST00000700091.1:c.1323_1331del (MASP2)	ENSP00000514790.1:p.His442_Thr444del
ENST00000700092.1:c.1500_1508del (MASP2)	ENSP00000514791.1:p.His501_Thr503del
ENST00000700093.1:c.1497_1505del (MASP2)	ENSP00000514792.1:p.His500_Thr502del
ENST00000700094.1:c.1529_1537del (MASP2)	ENSP00000514793.1:n.1529_1537del
ENST00000700095.1:c.1298-577_1298-569del (MASP2)	ENSP00000514794.1:n.1298-577_1298-569del
ENST00000700096.1:c.1101-577_1101-569del (MASP2)	ENSP00000514795.1:n.1101-577_1101-569del
ENST00000700097.1:c.1549_1557del (MASP2)	ENSP00000514796.1:n.1549_1557del
ENST00000400897.8:c.1521_1529del (MASP2) MANE Select	ENSP00000383690.3:p.His508_Thr510del
ENST00000400897.7:c.1521_1529del (MASP2)	ENSP00000383690.3:p.His508_Thr510del
ENST00000611136.4:c.448+2210_448+2218del
ENST00000612542.1:c.206+2210_206+2218del
ENST00000614757.4:c.*452+2210_*452+2218del	ENSP00000481867.1:n.*452+2210_*452+2218del
ENST00000620028.1:n.416+2210_416+2218del
ENST00000622108.1:c.231+2210_231+2218del	ENSP00000480398.1:n.231+2210_231+2218del
NM_006610.3:c.1521_1529del (MASP2)	NP_006601.2:p.His508_Thr510del
XM_017000863.2:c.*3011+1753_*3011+1761del (TARDBP)	XP_016856352.1:n.*3011+1753_*3011+1761del
XM_017000864.2:c.*1895+1753_*1895+1761del (TARDBP)	XP_016856353.1:n.*1895+1753_*1895+1761del
XM_017000865.2:c.*1780+2210_*1780+2218del (TARDBP)	XP_016856354.1:n.*1780+2210_*1780+2218del
NM_006610.4:c.1521_1529del (MASP2) MANE Select	NP_006601.2:p.His508_Thr510del