Canonical Allele Identifier: CA416041295

Gene: MASP2 TARDBP

Linked Data

• MyVariant Identifiers: chr1:g.11087395_11087396insA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027339dup , CM000663.2:g.11027339dup	GRCh38
NC_000001.10:g.11087396dup , CM000663.1:g.11087396dup	GRCh37
NC_000001.9:g.11009983dup	NCBI36
NG_007289.1:g.24891dup
NG_008734.1:g.19718dup , LRG_659:g.19718dup
NG_007289.2:g.24891dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.547dup (MASP2)
ENST00000699958.1:c.1503dup (MASP2)	ENSP00000514717.1:p.Lys502Ter
ENST00000700088.1:c.1298-490dup (MASP2)	ENSP00000514787.1:n.1298-490dup
ENST00000700089.1:c.1605dup (MASP2)	ENSP00000514788.1:n.1605dup
ENST00000700090.1:c.1487dup (MASP2)	ENSP00000514789.1:n.1487dup
ENST00000700091.1:c.1410dup (MASP2)	ENSP00000514790.1:p.Lys471Ter
ENST00000700092.1:c.1587dup (MASP2)	ENSP00000514791.1:p.Lys530Ter
ENST00000700093.1:c.1584dup (MASP2)	ENSP00000514792.1:p.Lys529Ter
ENST00000700094.1:c.1616dup (MASP2)	ENSP00000514793.1:n.1616dup
ENST00000700095.1:c.1298-490dup (MASP2)	ENSP00000514794.1:n.1298-490dup
ENST00000700096.1:c.1101-490dup (MASP2)	ENSP00000514795.1:n.1101-490dup
ENST00000700097.1:c.1636dup (MASP2)	ENSP00000514796.1:n.1636dup
ENST00000400897.8:c.1608dup (MASP2) MANE Select	ENSP00000383690.3:p.Lys537Ter
ENST00000400897.7:c.1608dup (MASP2)	ENSP00000383690.3:p.Lys537Ter
ENST00000611136.4:c.448+2131dup
ENST00000612542.1:c.206+2131dup
ENST00000614757.4:c.*452+2131dup	ENSP00000481867.1:n.*452+2131dup
ENST00000620028.1:n.416+2131dup
ENST00000622108.1:c.231+2131dup	ENSP00000480398.1:n.231+2131dup
NM_006610.3:c.1608dup (MASP2)	NP_006601.2:p.Lys537Ter
XM_017000863.2:c.*3011+1674dup (TARDBP)	XP_016856352.1:n.*3011+1674dup
XM_017000864.2:c.*1895+1674dup (TARDBP)	XP_016856353.1:n.*1895+1674dup
XM_017000865.2:c.*1780+2131dup (TARDBP)	XP_016856354.1:n.*1780+2131dup
NM_006610.4:c.1608dup (MASP2) MANE Select	NP_006601.2:p.Lys537Ter