Canonical Allele Identifier: CA416041370

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1570732399
• MyVariant Identifiers: chr1:g.11087455A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027398A>T , CM000663.2:g.11027398A>T	GRCh38
NC_000001.10:g.11087455A>T , CM000663.1:g.11087455A>T	GRCh37
NC_000001.9:g.11010042A>T	NCBI36
NG_007289.1:g.24831T>A
NG_008734.1:g.19777A>T , LRG_659:g.19777A>T
NG_007289.2:g.24831T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.487T>A (MASP2)
ENST00000699958.1:c.1443T>A (MASP2)	ENSP00000514717.1:p.Ala481=
ENST00000700088.1:c.1298-550T>A (MASP2)	ENSP00000514787.1:n.1298-550T>A
ENST00000700089.1:c.1545T>A (MASP2)	ENSP00000514788.1:n.1545T>A
ENST00000700090.1:c.1427T>A (MASP2)	ENSP00000514789.1:n.1427T>A
ENST00000700091.1:c.1350T>A (MASP2)	ENSP00000514790.1:p.Ala450=
ENST00000700092.1:c.1527T>A (MASP2)	ENSP00000514791.1:p.Ala509=
ENST00000700093.1:c.1524T>A (MASP2)	ENSP00000514792.1:p.Ala508=
ENST00000700094.1:c.1556T>A (MASP2)	ENSP00000514793.1:n.1556T>A
ENST00000700095.1:c.1298-550T>A (MASP2)	ENSP00000514794.1:n.1298-550T>A
ENST00000700096.1:c.1101-550T>A (MASP2)	ENSP00000514795.1:n.1101-550T>A
ENST00000700097.1:c.1576T>A (MASP2)	ENSP00000514796.1:n.1576T>A
ENST00000400897.8:c.1548T>A (MASP2) MANE Select	ENSP00000383690.3:p.Ala516=
ENST00000400897.7:c.1548T>A (MASP2)	ENSP00000383690.3:p.Ala516=
ENST00000611136.4:c.448+2190A>T
ENST00000612542.1:c.206+2190A>T
ENST00000614757.4:c.*452+2190A>T	ENSP00000481867.1:n.*452+2190A>T
ENST00000620028.1:n.416+2190A>T
ENST00000622108.1:c.231+2190A>T	ENSP00000480398.1:n.231+2190A>T
NM_006610.3:c.1548T>A (MASP2)	NP_006601.2:p.Ala516=
XM_017000863.2:c.*3011+1733A>T (TARDBP)	XP_016856352.1:n.*3011+1733A>T
XM_017000864.2:c.*1895+1733A>T (TARDBP)	XP_016856353.1:n.*1895+1733A>T
XM_017000865.2:c.*1780+2190A>T (TARDBP)	XP_016856354.1:n.*1780+2190A>T
NM_006610.4:c.1548T>A (MASP2) MANE Select	NP_006601.2:p.Ala516=