Canonical Allele Identifier: CA338374405

Gene: MASP2 TARDBP

Linked Data

• MyVariant Identifiers: chr1:g.11087459T>G (hg19) ; chr1:g.11027402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027402T>G , CM000663.2:g.11027402T>G	GRCh38
NC_000001.10:g.11087459T>G , CM000663.1:g.11087459T>G	GRCh37
NC_000001.9:g.11010046T>G	NCBI36
NG_007289.1:g.24827A>C
NG_008734.1:g.19781T>G , LRG_659:g.19781T>G
NG_007289.2:g.24827A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.483A>C (MASP2)
ENST00000699958.1:c.1439A>C (MASP2)	ENSP00000514717.1:p.Glu480Ala
ENST00000700088.1:c.1298-554A>C (MASP2)	ENSP00000514787.1:n.1298-554A>C
ENST00000700089.1:c.1541A>C (MASP2)	ENSP00000514788.1:n.1541A>C
ENST00000700090.1:c.1423A>C (MASP2)	ENSP00000514789.1:n.1423A>C
ENST00000700091.1:c.1346A>C (MASP2)	ENSP00000514790.1:p.Glu449Ala
ENST00000700092.1:c.1523A>C (MASP2)	ENSP00000514791.1:p.Glu508Ala
ENST00000700093.1:c.1520A>C (MASP2)	ENSP00000514792.1:p.Glu507Ala
ENST00000700094.1:c.1552A>C (MASP2)	ENSP00000514793.1:n.1552A>C
ENST00000700095.1:c.1298-554A>C (MASP2)	ENSP00000514794.1:n.1298-554A>C
ENST00000700096.1:c.1101-554A>C (MASP2)	ENSP00000514795.1:n.1101-554A>C
ENST00000700097.1:c.1572A>C (MASP2)	ENSP00000514796.1:n.1572A>C
ENST00000400897.8:c.1544A>C (MASP2) MANE Select	ENSP00000383690.3:p.Glu515Ala
ENST00000400897.7:c.1544A>C (MASP2)	ENSP00000383690.3:p.Glu515Ala
ENST00000611136.4:c.448+2194T>G
ENST00000612542.1:c.206+2194T>G
ENST00000614757.4:c.*452+2194T>G	ENSP00000481867.1:n.*452+2194T>G
ENST00000620028.1:n.416+2194T>G
ENST00000622108.1:c.231+2194T>G	ENSP00000480398.1:n.231+2194T>G
NM_006610.3:c.1544A>C (MASP2)	NP_006601.2:p.Glu515Ala
XM_017000863.2:c.*3011+1737T>G (TARDBP)	XP_016856352.1:n.*3011+1737T>G
XM_017000864.2:c.*1895+1737T>G (TARDBP)	XP_016856353.1:n.*1895+1737T>G
XM_017000865.2:c.*1780+2194T>G (TARDBP)	XP_016856354.1:n.*1780+2194T>G
NM_006610.4:c.1544A>C (MASP2) MANE Select	NP_006601.2:p.Glu515Ala