Canonical Allele Identifier: CA338374651

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027459-T-G
• MyVariant Identifiers: chr1:g.11087516T>G (hg19) ; chr1:g.11027459T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027459T>G , CM000663.2:g.11027459T>G	GRCh38
NC_000001.10:g.11087516T>G , CM000663.1:g.11087516T>G	GRCh37
NC_000001.9:g.11010103T>G	NCBI36
NG_007289.1:g.24770A>C
NG_008734.1:g.19838T>G , LRG_659:g.19838T>G
NG_007289.2:g.24770A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.426A>C (MASP2)
ENST00000699958.1:c.1382A>C (MASP2)	ENSP00000514717.1:p.Asp461Ala
ENST00000700088.1:c.1298-611A>C (MASP2)	ENSP00000514787.1:n.1298-611A>C
ENST00000700089.1:c.1484A>C (MASP2)	ENSP00000514788.1:n.1484A>C
ENST00000700090.1:c.1366A>C (MASP2)	ENSP00000514789.1:n.1366A>C
ENST00000700091.1:c.1289A>C (MASP2)	ENSP00000514790.1:p.Asp430Ala
ENST00000700092.1:c.1466A>C (MASP2)	ENSP00000514791.1:p.Asp489Ala
ENST00000700093.1:c.1463A>C (MASP2)	ENSP00000514792.1:p.Asp488Ala
ENST00000700094.1:c.1495A>C (MASP2)	ENSP00000514793.1:n.1495A>C
ENST00000700095.1:c.1298-611A>C (MASP2)	ENSP00000514794.1:n.1298-611A>C
ENST00000700096.1:c.1101-611A>C (MASP2)	ENSP00000514795.1:n.1101-611A>C
ENST00000700097.1:c.1515A>C (MASP2)	ENSP00000514796.1:n.1515A>C
ENST00000400897.8:c.1487A>C (MASP2) MANE Select	ENSP00000383690.3:p.Asp496Ala
ENST00000400897.7:c.1487A>C (MASP2)	ENSP00000383690.3:p.Asp496Ala
ENST00000611136.4:c.448+2251T>G
ENST00000612542.1:c.206+2251T>G
ENST00000614757.4:c.*452+2251T>G	ENSP00000481867.1:n.*452+2251T>G
ENST00000620028.1:n.416+2251T>G
ENST00000622108.1:c.232-2228T>G	ENSP00000480398.1:n.232-2228T>G
NM_006610.3:c.1487A>C (MASP2)	NP_006601.2:p.Asp496Ala
XM_017000863.2:c.*3011+1794T>G (TARDBP)	XP_016856352.1:n.*3011+1794T>G
XM_017000864.2:c.*1895+1794T>G (TARDBP)	XP_016856353.1:n.*1895+1794T>G
XM_017000865.2:c.*1781-2228T>G (TARDBP)	XP_016856354.1:n.*1781-2228T>G
NM_006610.4:c.1487A>C (MASP2) MANE Select	NP_006601.2:p.Asp496Ala