Canonical Allele Identifier: CA338375571

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027567-A-G
• MyVariant Identifiers: chr1:g.11087624A>G (hg19) ; chr1:g.11027567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027567A>G , CM000663.2:g.11027567A>G	GRCh38
NC_000001.10:g.11087624A>G , CM000663.1:g.11087624A>G	GRCh37
NC_000001.9:g.11010211A>G	NCBI36
NG_007289.1:g.24662T>C
NG_007289.2:g.24662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.318T>C (MASP2)
ENST00000699958.1:c.1274T>C (MASP2)	ENSP00000514717.1:p.Val425Ala
ENST00000700088.1:c.1298-719T>C (MASP2)	ENSP00000514787.1:n.1298-719T>C
ENST00000700089.1:c.1376T>C (MASP2)	ENSP00000514788.1:n.1376T>C
ENST00000700090.1:c.1258T>C (MASP2)	ENSP00000514789.1:n.1258T>C
ENST00000700091.1:c.1181T>C (MASP2)	ENSP00000514790.1:p.Val394Ala
ENST00000700092.1:c.1358T>C (MASP2)	ENSP00000514791.1:p.Val453Ala
ENST00000700093.1:c.1355T>C (MASP2)	ENSP00000514792.1:p.Val452Ala
ENST00000700094.1:c.1387T>C (MASP2)	ENSP00000514793.1:n.1387T>C
ENST00000700095.1:c.1298-719T>C (MASP2)	ENSP00000514794.1:n.1298-719T>C
ENST00000700096.1:c.1101-719T>C (MASP2)	ENSP00000514795.1:n.1101-719T>C
ENST00000700097.1:c.1407T>C (MASP2)	ENSP00000514796.1:n.1407T>C
ENST00000400897.8:c.1379T>C (MASP2) MANE Select	ENSP00000383690.3:p.Val460Ala
ENST00000400897.7:c.1379T>C (MASP2)	ENSP00000383690.3:p.Val460Ala
ENST00000611136.4:c.448+2359A>G
ENST00000612542.1:c.206+2359A>G
ENST00000614757.4:c.*452+2359A>G	ENSP00000481867.1:n.*452+2359A>G
ENST00000620028.1:n.416+2359A>G
ENST00000622108.1:c.232-2120A>G	ENSP00000480398.1:n.232-2120A>G
NM_006610.3:c.1379T>C (MASP2)	NP_006601.2:p.Val460Ala
XM_017000863.2:c.*3011+1902A>G (TARDBP)	XP_016856352.1:n.*3011+1902A>G
XM_017000864.2:c.*1895+1902A>G (TARDBP)	XP_016856353.1:n.*1895+1902A>G
XM_017000865.2:c.*1781-2120A>G (TARDBP)	XP_016856354.1:n.*1781-2120A>G
NM_006610.4:c.1379T>C (MASP2) MANE Select	NP_006601.2:p.Val460Ala