Canonical Allele Identifier: CA586654

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs200468343
• ExAC: 1:11087511 G / A
• gnomAD v2: 1-11087511-G-A
• gnomAD v3: 1-11027454-G-A
• gnomAD v4: 1-11027454-G-A
• COSMIC: COSM1332512
• MyVariant Identifiers: chr1:g.11087511G>A (hg19) ; chr1:g.11027454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027454G>A , CM000663.2:g.11027454G>A	GRCh38
NC_000001.10:g.11087511G>A , CM000663.1:g.11087511G>A	GRCh37
NC_000001.9:g.11010098G>A	NCBI36
NG_007289.1:g.24775C>T
NG_008734.1:g.19833G>A , LRG_659:g.19833G>A
NG_007289.2:g.24775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.431C>T (MASP2)
ENST00000699958.1:c.1387C>T (MASP2)	ENSP00000514717.1:p.Arg463Ter
ENST00000700088.1:c.1298-606C>T (MASP2)	ENSP00000514787.1:n.1298-606C>T
ENST00000700089.1:c.1489C>T (MASP2)	ENSP00000514788.1:n.1489C>T
ENST00000700090.1:c.1371C>T (MASP2)	ENSP00000514789.1:n.1371C>T
ENST00000700091.1:c.1294C>T (MASP2)	ENSP00000514790.1:p.Arg432Ter
ENST00000700092.1:c.1471C>T (MASP2)	ENSP00000514791.1:p.Arg491Ter
ENST00000700093.1:c.1468C>T (MASP2)	ENSP00000514792.1:p.Arg490Ter
ENST00000700094.1:c.1500C>T (MASP2)	ENSP00000514793.1:n.1500C>T
ENST00000700095.1:c.1298-606C>T (MASP2)	ENSP00000514794.1:n.1298-606C>T
ENST00000700096.1:c.1101-606C>T (MASP2)	ENSP00000514795.1:n.1101-606C>T
ENST00000700097.1:c.1520C>T (MASP2)	ENSP00000514796.1:n.1520C>T
ENST00000400897.8:c.1492C>T (MASP2) MANE Select	ENSP00000383690.3:p.Arg498Ter
ENST00000400897.7:c.1492C>T (MASP2)	ENSP00000383690.3:p.Arg498Ter
ENST00000611136.4:c.448+2246G>A
ENST00000612542.1:c.206+2246G>A
ENST00000614757.4:c.*452+2246G>A	ENSP00000481867.1:n.*452+2246G>A
ENST00000620028.1:n.416+2246G>A
ENST00000622108.1:c.232-2233G>A	ENSP00000480398.1:n.232-2233G>A
NM_006610.3:c.1492C>T (MASP2)	NP_006601.2:p.Arg498Ter
XM_017000863.2:c.*3011+1789G>A (TARDBP)	XP_016856352.1:n.*3011+1789G>A
XM_017000864.2:c.*1895+1789G>A (TARDBP)	XP_016856353.1:n.*1895+1789G>A
XM_017000865.2:c.*1781-2233G>A (TARDBP)	XP_016856354.1:n.*1781-2233G>A
NM_006610.4:c.1492C>T (MASP2) MANE Select	NP_006601.2:p.Arg498Ter