Canonical Allele Identifier: CA885396269

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1239886321
• gnomAD v3: 1-11027523-CAT-C
• gnomAD v4: 1-11027523-CAT-C
• MyVariant Identifiers: chr1:g.11087581_11087582del (hg19) ; chr1:g.11027524_11027525del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027527_11027528del , CM000663.2:g.11027527_11027528del	GRCh38
NC_000001.10:g.11087584_11087585del , CM000663.1:g.11087584_11087585del	GRCh37
NC_000001.9:g.11010171_11010172del	NCBI36
NG_007289.1:g.24704_24705del
NG_007289.2:g.24704_24705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.360_361del (MASP2)
ENST00000699958.1:c.1316_1317del (MASP2)	ENSP00000514717.1:p.Tyr439Ter
ENST00000700088.1:c.1298-677_1298-676del (MASP2)	ENSP00000514787.1:n.1298-677_1298-676del
ENST00000700089.1:c.1418_1419del (MASP2)	ENSP00000514788.1:n.1418_1419del
ENST00000700090.1:c.1300_1301del (MASP2)	ENSP00000514789.1:n.1300_1301del
ENST00000700091.1:c.1223_1224del (MASP2)	ENSP00000514790.1:p.Tyr408Ter
ENST00000700092.1:c.1400_1401del (MASP2)	ENSP00000514791.1:p.Tyr467Ter
ENST00000700093.1:c.1397_1398del (MASP2)	ENSP00000514792.1:p.Tyr466Ter
ENST00000700094.1:c.1429_1430del (MASP2)	ENSP00000514793.1:n.1429_1430del
ENST00000700095.1:c.1298-677_1298-676del (MASP2)	ENSP00000514794.1:n.1298-677_1298-676del
ENST00000700096.1:c.1101-677_1101-676del (MASP2)	ENSP00000514795.1:n.1101-677_1101-676del
ENST00000700097.1:c.1449_1450del (MASP2)	ENSP00000514796.1:n.1449_1450del
ENST00000400897.8:c.1421_1422del (MASP2) MANE Select	ENSP00000383690.3:p.Tyr474Ter
ENST00000400897.7:c.1421_1422del (MASP2)	ENSP00000383690.3:p.Tyr474Ter
ENST00000611136.4:c.448+2319_448+2320del
ENST00000612542.1:c.206+2319_206+2320del
ENST00000614757.4:c.*452+2319_*452+2320del	ENSP00000481867.1:n.*452+2319_*452+2320del
ENST00000620028.1:n.416+2319_416+2320del
ENST00000622108.1:c.232-2160_232-2159del	ENSP00000480398.1:n.232-2160_232-2159del
NM_006610.3:c.1421_1422del (MASP2)	NP_006601.2:p.Tyr474Ter
XM_017000863.2:c.*3011+1862_*3011+1863del (TARDBP)	XP_016856352.1:n.*3011+1862_*3011+1863del
XM_017000864.2:c.*1895+1862_*1895+1863del (TARDBP)	XP_016856353.1:n.*1895+1862_*1895+1863del
XM_017000865.2:c.*1781-2160_*1781-2159del (TARDBP)	XP_016856354.1:n.*1781-2160_*1781-2159del
NM_006610.4:c.1421_1422del (MASP2) MANE Select	NP_006601.2:p.Tyr474Ter