Canonical Allele Identifier: CA586665

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 2408091
• ClinVar RCV Id: RCV004242110
• dbSNP Id: rs781121308
• ExAC: 1:11087550 C / T
• gnomAD v2: 1-11087550-C-T
• gnomAD v3: 1-11027493-C-T
• gnomAD v4: 1-11027493-C-T
• MyVariant Identifiers: chr1:g.11087550C>T (hg19) ; chr1:g.11027493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027493C>T , CM000663.2:g.11027493C>T	GRCh38
NC_000001.10:g.11087550C>T , CM000663.1:g.11087550C>T	GRCh37
NC_000001.9:g.11010137C>T	NCBI36
NG_007289.1:g.24736G>A
NG_007289.2:g.24736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.392G>A (MASP2)
ENST00000699958.1:c.1348G>A (MASP2)	ENSP00000514717.1:p.Val450Ile
ENST00000700088.1:c.1298-645G>A (MASP2)	ENSP00000514787.1:n.1298-645G>A
ENST00000700089.1:c.1450G>A (MASP2)	ENSP00000514788.1:n.1450G>A
ENST00000700090.1:c.1332G>A (MASP2)	ENSP00000514789.1:n.1332G>A
ENST00000700091.1:c.1255G>A (MASP2)	ENSP00000514790.1:p.Val419Ile
ENST00000700092.1:c.1432G>A (MASP2)	ENSP00000514791.1:p.Val478Ile
ENST00000700093.1:c.1429G>A (MASP2)	ENSP00000514792.1:p.Val477Ile
ENST00000700094.1:c.1461G>A (MASP2)	ENSP00000514793.1:n.1461G>A
ENST00000700095.1:c.1298-645G>A (MASP2)	ENSP00000514794.1:n.1298-645G>A
ENST00000700096.1:c.1101-645G>A (MASP2)	ENSP00000514795.1:n.1101-645G>A
ENST00000700097.1:c.1481G>A (MASP2)	ENSP00000514796.1:n.1481G>A
ENST00000400897.8:c.1453G>A (MASP2) MANE Select	ENSP00000383690.3:p.Val485Ile
ENST00000400897.7:c.1453G>A (MASP2)	ENSP00000383690.3:p.Val485Ile
ENST00000611136.4:c.448+2285C>T
ENST00000612542.1:c.206+2285C>T
ENST00000614757.4:c.*452+2285C>T	ENSP00000481867.1:n.*452+2285C>T
ENST00000620028.1:n.416+2285C>T
ENST00000622108.1:c.232-2194C>T	ENSP00000480398.1:n.232-2194C>T
NM_006610.3:c.1453G>A (MASP2)	NP_006601.2:p.Val485Ile
XM_017000863.2:c.*3011+1828C>T (TARDBP)	XP_016856352.1:n.*3011+1828C>T
XM_017000864.2:c.*1895+1828C>T (TARDBP)	XP_016856353.1:n.*1895+1828C>T
XM_017000865.2:c.*1781-2194C>T (TARDBP)	XP_016856354.1:n.*1781-2194C>T
NM_006610.4:c.1453G>A (MASP2) MANE Select	NP_006601.2:p.Val485Ile