Canonical Allele Identifier: CA1153468969

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1643756301

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027421_11027423del , CM000663.2:g.11027421_11027423del	GRCh38
NC_000001.10:g.11087478_11087480del , CM000663.1:g.11087478_11087480del	GRCh37
NC_000001.9:g.11010065_11010067del	NCBI36
NG_007289.1:g.24808_24810del
NG_008734.1:g.19800_19802del , LRG_659:g.19800_19802del
NG_007289.2:g.24808_24810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.464_466del (MASP2)
ENST00000699958.1:c.1420_1422del (MASP2)	ENSP00000514717.1:p.Tyr474del
ENST00000700088.1:c.1298-573_1298-571del (MASP2)	ENSP00000514787.1:n.1298-573_1298-571del
ENST00000700089.1:c.1522_1524del (MASP2)	ENSP00000514788.1:n.1522_1524del
ENST00000700090.1:c.1404_1406del (MASP2)	ENSP00000514789.1:n.1404_1406del
ENST00000700091.1:c.1327_1329del (MASP2)	ENSP00000514790.1:p.Tyr443del
ENST00000700092.1:c.1504_1506del (MASP2)	ENSP00000514791.1:p.Tyr502del
ENST00000700093.1:c.1501_1503del (MASP2)	ENSP00000514792.1:p.Tyr501del
ENST00000700094.1:c.1533_1535del (MASP2)	ENSP00000514793.1:n.1533_1535del
ENST00000700095.1:c.1298-573_1298-571del (MASP2)	ENSP00000514794.1:n.1298-573_1298-571del
ENST00000700096.1:c.1101-573_1101-571del (MASP2)	ENSP00000514795.1:n.1101-573_1101-571del
ENST00000700097.1:c.1553_1555del (MASP2)	ENSP00000514796.1:n.1553_1555del
ENST00000400897.8:c.1525_1527del (MASP2) MANE Select	ENSP00000383690.3:p.Tyr509del
ENST00000400897.7:c.1525_1527del (MASP2)	ENSP00000383690.3:p.Tyr509del
ENST00000611136.4:c.448+2213_448+2215del
ENST00000612542.1:c.206+2213_206+2215del
ENST00000614757.4:c.*452+2213_*452+2215del	ENSP00000481867.1:n.*452+2213_*452+2215del
ENST00000620028.1:n.416+2213_416+2215del
ENST00000622108.1:c.231+2213_231+2215del	ENSP00000480398.1:n.231+2213_231+2215del
NM_006610.3:c.1525_1527del (MASP2)	NP_006601.2:p.Tyr509del
XM_017000863.2:c.*3011+1756_*3011+1758del (TARDBP)	XP_016856352.1:n.*3011+1756_*3011+1758del
XM_017000864.2:c.*1895+1756_*1895+1758del (TARDBP)	XP_016856353.1:n.*1895+1756_*1895+1758del
XM_017000865.2:c.*1780+2213_*1780+2215del (TARDBP)	XP_016856354.1:n.*1780+2213_*1780+2215del
NM_006610.4:c.1525_1527del (MASP2) MANE Select	NP_006601.2:p.Tyr509del