Canonical Allele Identifier: CA586672

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs369045722
• ExAC: 1:11087583 A / G
• gnomAD v2: 1-11087583-A-G
• gnomAD v3: 1-11027526-A-G
• gnomAD v4: 1-11027526-A-G
• MyVariant Identifiers: chr1:g.11087583A>G (hg19) ; chr1:g.11027526A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027526A>G , CM000663.2:g.11027526A>G	GRCh38
NC_000001.10:g.11087583A>G , CM000663.1:g.11087583A>G	GRCh37
NC_000001.9:g.11010170A>G	NCBI36
NG_007289.1:g.24703T>C
NG_007289.2:g.24703T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.359T>C (MASP2)
ENST00000699958.1:c.1315T>C (MASP2)	ENSP00000514717.1:p.Tyr439His
ENST00000700088.1:c.1298-678T>C (MASP2)	ENSP00000514787.1:n.1298-678T>C
ENST00000700089.1:c.1417T>C (MASP2)	ENSP00000514788.1:n.1417T>C
ENST00000700090.1:c.1299T>C (MASP2)	ENSP00000514789.1:n.1299T>C
ENST00000700091.1:c.1222T>C (MASP2)	ENSP00000514790.1:p.Tyr408His
ENST00000700092.1:c.1399T>C (MASP2)	ENSP00000514791.1:p.Tyr467His
ENST00000700093.1:c.1396T>C (MASP2)	ENSP00000514792.1:p.Tyr466His
ENST00000700094.1:c.1428T>C (MASP2)	ENSP00000514793.1:n.1428T>C
ENST00000700095.1:c.1298-678T>C (MASP2)	ENSP00000514794.1:n.1298-678T>C
ENST00000700096.1:c.1101-678T>C (MASP2)	ENSP00000514795.1:n.1101-678T>C
ENST00000700097.1:c.1448T>C (MASP2)	ENSP00000514796.1:n.1448T>C
ENST00000400897.8:c.1420T>C (MASP2) MANE Select	ENSP00000383690.3:p.Tyr474His
ENST00000400897.7:c.1420T>C (MASP2)	ENSP00000383690.3:p.Tyr474His
ENST00000611136.4:c.448+2318A>G
ENST00000612542.1:c.206+2318A>G
ENST00000614757.4:c.*452+2318A>G	ENSP00000481867.1:n.*452+2318A>G
ENST00000620028.1:n.416+2318A>G
ENST00000622108.1:c.232-2161A>G	ENSP00000480398.1:n.232-2161A>G
NM_006610.3:c.1420T>C (MASP2)	NP_006601.2:p.Tyr474His
XM_017000863.2:c.*3011+1861A>G (TARDBP)	XP_016856352.1:n.*3011+1861A>G
XM_017000864.2:c.*1895+1861A>G (TARDBP)	XP_016856353.1:n.*1895+1861A>G
XM_017000865.2:c.*1781-2161A>G (TARDBP)	XP_016856354.1:n.*1781-2161A>G
NM_006610.4:c.1420T>C (MASP2) MANE Select	NP_006601.2:p.Tyr474His