Canonical Allele Identifier: CA2643225736

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027423-TGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027425_11027427del , CM000663.2:g.11027425_11027427del	GRCh38
NC_000001.10:g.11087482_11087484del , CM000663.1:g.11087482_11087484del	GRCh37
NC_000001.9:g.11010069_11010071del	NCBI36
NG_007289.1:g.24803_24805del
NG_008734.1:g.19804_19806del , LRG_659:g.19804_19806del
NG_007289.2:g.24803_24805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.459_461del (MASP2)
ENST00000699958.1:c.1415_1417del (MASP2)	ENSP00000514717.1:p.Pro472del
ENST00000700088.1:c.1298-578_1298-576del (MASP2)	ENSP00000514787.1:n.1298-578_1298-576del
ENST00000700089.1:c.1517_1519del (MASP2)	ENSP00000514788.1:n.1517_1519del
ENST00000700090.1:c.1399_1401del (MASP2)	ENSP00000514789.1:n.1399_1401del
ENST00000700091.1:c.1322_1324del (MASP2)	ENSP00000514790.1:p.Pro441del
ENST00000700092.1:c.1499_1501del (MASP2)	ENSP00000514791.1:p.Pro500del
ENST00000700093.1:c.1496_1498del (MASP2)	ENSP00000514792.1:p.Pro499del
ENST00000700094.1:c.1528_1530del (MASP2)	ENSP00000514793.1:n.1528_1530del
ENST00000700095.1:c.1298-578_1298-576del (MASP2)	ENSP00000514794.1:n.1298-578_1298-576del
ENST00000700096.1:c.1101-578_1101-576del (MASP2)	ENSP00000514795.1:n.1101-578_1101-576del
ENST00000700097.1:c.1548_1550del (MASP2)	ENSP00000514796.1:n.1548_1550del
ENST00000400897.8:c.1520_1522del (MASP2) MANE Select	ENSP00000383690.3:p.Pro507del
ENST00000400897.7:c.1520_1522del (MASP2)	ENSP00000383690.3:p.Pro507del
ENST00000611136.4:c.448+2217_448+2219del
ENST00000612542.1:c.206+2217_206+2219del
ENST00000614757.4:c.*452+2217_*452+2219del	ENSP00000481867.1:n.*452+2217_*452+2219del
ENST00000620028.1:n.416+2217_416+2219del
ENST00000622108.1:c.231+2217_231+2219del	ENSP00000480398.1:n.231+2217_231+2219del
NM_006610.3:c.1520_1522del (MASP2)	NP_006601.2:p.Pro507del
XM_017000863.2:c.*3011+1760_*3011+1762del (TARDBP)	XP_016856352.1:n.*3011+1760_*3011+1762del
XM_017000864.2:c.*1895+1760_*1895+1762del (TARDBP)	XP_016856353.1:n.*1895+1760_*1895+1762del
XM_017000865.2:c.*1780+2217_*1780+2219del (TARDBP)	XP_016856354.1:n.*1780+2217_*1780+2219del
NM_006610.4:c.1520_1522del (MASP2) MANE Select	NP_006601.2:p.Pro507del