Canonical Allele Identifier: CA586658

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 2284591
• ClinVar RCV Id: RCV004138635
• dbSNP Id: rs757050153
• ExAC: 1:11087529 C / T
• gnomAD v2: 1-11087529-C-T
• gnomAD v3: 1-11027472-C-T
• gnomAD v4: 1-11027472-C-T
• MyVariant Identifiers: chr1:g.11087529C>T (hg19) ; chr1:g.11027472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027472C>T , CM000663.2:g.11027472C>T	GRCh38
NC_000001.10:g.11087529C>T , CM000663.1:g.11087529C>T	GRCh37
NC_000001.9:g.11010116C>T	NCBI36
NG_007289.1:g.24757G>A
NG_008734.1:g.19851C>T , LRG_659:g.19851C>T
NG_007289.2:g.24757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.413G>A (MASP2)
ENST00000699958.1:c.1369G>A (MASP2)	ENSP00000514717.1:p.Ala457Thr
ENST00000700088.1:c.1298-624G>A (MASP2)	ENSP00000514787.1:n.1298-624G>A
ENST00000700089.1:c.1471G>A (MASP2)	ENSP00000514788.1:n.1471G>A
ENST00000700090.1:c.1353G>A (MASP2)	ENSP00000514789.1:n.1353G>A
ENST00000700091.1:c.1276G>A (MASP2)	ENSP00000514790.1:p.Ala426Thr
ENST00000700092.1:c.1453G>A (MASP2)	ENSP00000514791.1:p.Ala485Thr
ENST00000700093.1:c.1450G>A (MASP2)	ENSP00000514792.1:p.Ala484Thr
ENST00000700094.1:c.1482G>A (MASP2)	ENSP00000514793.1:n.1482G>A
ENST00000700095.1:c.1298-624G>A (MASP2)	ENSP00000514794.1:n.1298-624G>A
ENST00000700096.1:c.1101-624G>A (MASP2)	ENSP00000514795.1:n.1101-624G>A
ENST00000700097.1:c.1502G>A (MASP2)	ENSP00000514796.1:n.1502G>A
ENST00000400897.8:c.1474G>A (MASP2) MANE Select	ENSP00000383690.3:p.Ala492Thr
ENST00000400897.7:c.1474G>A (MASP2)	ENSP00000383690.3:p.Ala492Thr
ENST00000611136.4:c.448+2264C>T
ENST00000612542.1:c.206+2264C>T
ENST00000614757.4:c.*452+2264C>T	ENSP00000481867.1:n.*452+2264C>T
ENST00000620028.1:n.416+2264C>T
ENST00000622108.1:c.232-2215C>T	ENSP00000480398.1:n.232-2215C>T
NM_006610.3:c.1474G>A (MASP2)	NP_006601.2:p.Ala492Thr
XM_017000863.2:c.*3011+1807C>T (TARDBP)	XP_016856352.1:n.*3011+1807C>T
XM_017000864.2:c.*1895+1807C>T (TARDBP)	XP_016856353.1:n.*1895+1807C>T
XM_017000865.2:c.*1781-2215C>T (TARDBP)	XP_016856354.1:n.*1781-2215C>T
NM_006610.4:c.1474G>A (MASP2) MANE Select	NP_006601.2:p.Ala492Thr