Canonical Allele Identifier: CA586677

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 3123750
• ClinVar RCV Id: RCV004416556
• dbSNP Id: rs150524896
• ExAC: 1:11087612 C / T
• gnomAD v2: 1-11087612-C-T
• gnomAD v4: 1-11027555-C-T
• MyVariant Identifiers: chr1:g.11087612C>T (hg19) ; chr1:g.11027555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027555C>T , CM000663.2:g.11027555C>T	GRCh38
NC_000001.10:g.11087612C>T , CM000663.1:g.11087612C>T	GRCh37
NC_000001.9:g.11010199C>T	NCBI36
NG_007289.1:g.24674G>A
NG_007289.2:g.24674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.330G>A (MASP2)
ENST00000699958.1:c.1286G>A (MASP2)	ENSP00000514717.1:p.Gly429Asp
ENST00000700088.1:c.1298-707G>A (MASP2)	ENSP00000514787.1:n.1298-707G>A
ENST00000700089.1:c.1388G>A (MASP2)	ENSP00000514788.1:n.1388G>A
ENST00000700090.1:c.1270G>A (MASP2)	ENSP00000514789.1:n.1270G>A
ENST00000700091.1:c.1193G>A (MASP2)	ENSP00000514790.1:p.Gly398Asp
ENST00000700092.1:c.1370G>A (MASP2)	ENSP00000514791.1:p.Gly457Asp
ENST00000700093.1:c.1367G>A (MASP2)	ENSP00000514792.1:p.Gly456Asp
ENST00000700094.1:c.1399G>A (MASP2)	ENSP00000514793.1:n.1399G>A
ENST00000700095.1:c.1298-707G>A (MASP2)	ENSP00000514794.1:n.1298-707G>A
ENST00000700096.1:c.1101-707G>A (MASP2)	ENSP00000514795.1:n.1101-707G>A
ENST00000700097.1:c.1419G>A (MASP2)	ENSP00000514796.1:n.1419G>A
ENST00000400897.8:c.1391G>A (MASP2) MANE Select	ENSP00000383690.3:p.Gly464Asp
ENST00000400897.7:c.1391G>A (MASP2)	ENSP00000383690.3:p.Gly464Asp
ENST00000611136.4:c.448+2347C>T
ENST00000612542.1:c.206+2347C>T
ENST00000614757.4:c.*452+2347C>T	ENSP00000481867.1:n.*452+2347C>T
ENST00000620028.1:n.416+2347C>T
ENST00000622108.1:c.232-2132C>T	ENSP00000480398.1:n.232-2132C>T
NM_006610.3:c.1391G>A (MASP2)	NP_006601.2:p.Gly464Asp
XM_017000863.2:c.*3011+1890C>T (TARDBP)	XP_016856352.1:n.*3011+1890C>T
XM_017000864.2:c.*1895+1890C>T (TARDBP)	XP_016856353.1:n.*1895+1890C>T
XM_017000865.2:c.*1781-2132C>T (TARDBP)	XP_016856354.1:n.*1781-2132C>T
NM_006610.4:c.1391G>A (MASP2) MANE Select	NP_006601.2:p.Gly464Asp