Canonical Allele Identifier: CA338374939

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027498-T-G
• MyVariant Identifiers: chr1:g.11087555T>G (hg19) ; chr1:g.11027498T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027498T>G , CM000663.2:g.11027498T>G	GRCh38
NC_000001.10:g.11087555T>G , CM000663.1:g.11087555T>G	GRCh37
NC_000001.9:g.11010142T>G	NCBI36
NG_007289.1:g.24731A>C
NG_007289.2:g.24731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.387A>C (MASP2)
ENST00000699958.1:c.1343A>C (MASP2)	ENSP00000514717.1:p.His448Pro
ENST00000700088.1:c.1298-650A>C (MASP2)	ENSP00000514787.1:n.1298-650A>C
ENST00000700089.1:c.1445A>C (MASP2)	ENSP00000514788.1:n.1445A>C
ENST00000700090.1:c.1327A>C (MASP2)	ENSP00000514789.1:n.1327A>C
ENST00000700091.1:c.1250A>C (MASP2)	ENSP00000514790.1:p.His417Pro
ENST00000700092.1:c.1427A>C (MASP2)	ENSP00000514791.1:p.His476Pro
ENST00000700093.1:c.1424A>C (MASP2)	ENSP00000514792.1:p.His475Pro
ENST00000700094.1:c.1456A>C (MASP2)	ENSP00000514793.1:n.1456A>C
ENST00000700095.1:c.1298-650A>C (MASP2)	ENSP00000514794.1:n.1298-650A>C
ENST00000700096.1:c.1101-650A>C (MASP2)	ENSP00000514795.1:n.1101-650A>C
ENST00000700097.1:c.1476A>C (MASP2)	ENSP00000514796.1:n.1476A>C
ENST00000400897.8:c.1448A>C (MASP2) MANE Select	ENSP00000383690.3:p.His483Pro
ENST00000400897.7:c.1448A>C (MASP2)	ENSP00000383690.3:p.His483Pro
ENST00000611136.4:c.448+2290T>G
ENST00000612542.1:c.206+2290T>G
ENST00000614757.4:c.*452+2290T>G	ENSP00000481867.1:n.*452+2290T>G
ENST00000620028.1:n.416+2290T>G
ENST00000622108.1:c.232-2189T>G	ENSP00000480398.1:n.232-2189T>G
NM_006610.3:c.1448A>C (MASP2)	NP_006601.2:p.His483Pro
XM_017000863.2:c.*3011+1833T>G (TARDBP)	XP_016856352.1:n.*3011+1833T>G
XM_017000864.2:c.*1895+1833T>G (TARDBP)	XP_016856353.1:n.*1895+1833T>G
XM_017000865.2:c.*1781-2189T>G (TARDBP)	XP_016856354.1:n.*1781-2189T>G
NM_006610.4:c.1448A>C (MASP2) MANE Select	NP_006601.2:p.His483Pro