Canonical Allele Identifier: CA586642

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 626137
• ClinVar RCV Id: RCV000768264
• dbSNP Id: rs745359886
• ExAC: 1:11087429 T / C
• gnomAD v2: 1-11087429-T-C
• gnomAD v3: 1-11027372-T-C
• gnomAD v4: 1-11027372-T-C
• MyVariant Identifiers: chr1:g.11087429T>C (hg19) ; chr1:g.11027372T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027372T>C , CM000663.2:g.11027372T>C	GRCh38
NC_000001.10:g.11087429T>C , CM000663.1:g.11087429T>C	GRCh37
NC_000001.9:g.11010016T>C	NCBI36
NG_007289.1:g.24857A>G
NG_008734.1:g.19751T>C , LRG_659:g.19751T>C
NG_007289.2:g.24857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.513A>G (MASP2)
ENST00000699958.1:c.1469A>G (MASP2)	ENSP00000514717.1:p.His490Arg
ENST00000700088.1:c.1298-524A>G (MASP2)	ENSP00000514787.1:n.1298-524A>G
ENST00000700089.1:c.1571A>G (MASP2)	ENSP00000514788.1:n.1571A>G
ENST00000700090.1:c.1453A>G (MASP2)	ENSP00000514789.1:n.1453A>G
ENST00000700091.1:c.1376A>G (MASP2)	ENSP00000514790.1:p.His459Arg
ENST00000700092.1:c.1553A>G (MASP2)	ENSP00000514791.1:p.His518Arg
ENST00000700093.1:c.1550A>G (MASP2)	ENSP00000514792.1:p.His517Arg
ENST00000700094.1:c.1582A>G (MASP2)	ENSP00000514793.1:n.1582A>G
ENST00000700095.1:c.1298-524A>G (MASP2)	ENSP00000514794.1:n.1298-524A>G
ENST00000700096.1:c.1101-524A>G (MASP2)	ENSP00000514795.1:n.1101-524A>G
ENST00000700097.1:c.1602A>G (MASP2)	ENSP00000514796.1:n.1602A>G
ENST00000400897.8:c.1574A>G (MASP2) MANE Select	ENSP00000383690.3:p.His525Arg
ENST00000400897.7:c.1574A>G (MASP2)	ENSP00000383690.3:p.His525Arg
ENST00000611136.4:c.448+2164T>C
ENST00000612542.1:c.206+2164T>C
ENST00000614757.4:c.*452+2164T>C	ENSP00000481867.1:n.*452+2164T>C
ENST00000620028.1:n.416+2164T>C
ENST00000622108.1:c.231+2164T>C	ENSP00000480398.1:n.231+2164T>C
NM_006610.3:c.1574A>G (MASP2)	NP_006601.2:p.His525Arg
XM_017000863.2:c.*3011+1707T>C (TARDBP)	XP_016856352.1:n.*3011+1707T>C
XM_017000864.2:c.*1895+1707T>C (TARDBP)	XP_016856353.1:n.*1895+1707T>C
XM_017000865.2:c.*1780+2164T>C (TARDBP)	XP_016856354.1:n.*1780+2164T>C
NM_006610.4:c.1574A>G (MASP2) MANE Select	NP_006601.2:p.His525Arg