Canonical Allele Identifier: CA17883089

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1034943096
• gnomAD v4: 1-11027596-C-T
• MyVariant Identifiers: chr1:g.11087653C>T (hg19) ; chr1:g.11027596C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027596C>T , CM000663.2:g.11027596C>T	GRCh38
NC_000001.10:g.11087653C>T , CM000663.1:g.11087653C>T	GRCh37
NC_000001.9:g.11010240C>T	NCBI36
NG_007289.1:g.24633G>A
NG_007289.2:g.24633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.289G>A (MASP2)
ENST00000699958.1:c.1245G>A (MASP2)	ENSP00000514717.1:p.Lys415=
ENST00000700088.1:c.1298-748G>A (MASP2)	ENSP00000514787.1:n.1298-748G>A
ENST00000700089.1:c.1347G>A (MASP2)	ENSP00000514788.1:n.1347G>A
ENST00000700090.1:c.1229G>A (MASP2)	ENSP00000514789.1:n.1229G>A
ENST00000700091.1:c.1152G>A (MASP2)	ENSP00000514790.1:p.Lys384=
ENST00000700092.1:c.1329G>A (MASP2)	ENSP00000514791.1:p.Lys443=
ENST00000700093.1:c.1326G>A (MASP2)	ENSP00000514792.1:p.Lys442=
ENST00000700094.1:c.1358G>A (MASP2)	ENSP00000514793.1:n.1358G>A
ENST00000700095.1:c.1298-748G>A (MASP2)	ENSP00000514794.1:n.1298-748G>A
ENST00000700096.1:c.1101-748G>A (MASP2)	ENSP00000514795.1:n.1101-748G>A
ENST00000700097.1:c.1378G>A (MASP2)	ENSP00000514796.1:p.Gly460Ser
ENST00000400897.8:c.1350G>A (MASP2) MANE Select	ENSP00000383690.3:p.Lys450=
ENST00000400897.7:c.1350G>A (MASP2)	ENSP00000383690.3:p.Lys450=
ENST00000611136.4:c.448+2388C>T
ENST00000612542.1:c.206+2388C>T
ENST00000614757.4:c.*452+2388C>T	ENSP00000481867.1:n.*452+2388C>T
ENST00000620028.1:n.416+2388C>T
ENST00000622108.1:c.232-2091C>T	ENSP00000480398.1:n.232-2091C>T
NM_006610.3:c.1350G>A (MASP2)	NP_006601.2:p.Lys450=
XM_017000863.2:c.*3011+1931C>T (TARDBP)	XP_016856352.1:n.*3011+1931C>T
XM_017000864.2:c.*1895+1931C>T (TARDBP)	XP_016856353.1:n.*1895+1931C>T
XM_017000865.2:c.*1781-2091C>T (TARDBP)	XP_016856354.1:n.*1781-2091C>T
NM_006610.4:c.1350G>A (MASP2) MANE Select	NP_006601.2:p.Lys450=