Canonical Allele Identifier: CA338374669

Gene: MASP2 TARDBP

Linked Data

• COSMIC: COSM4421718
• MyVariant Identifiers: chr1:g.11087520G>C (hg19) ; chr1:g.11027463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027463G>C , CM000663.2:g.11027463G>C	GRCh38
NC_000001.10:g.11087520G>C , CM000663.1:g.11087520G>C	GRCh37
NC_000001.9:g.11010107G>C	NCBI36
NG_007289.1:g.24766C>G
NG_008734.1:g.19842G>C , LRG_659:g.19842G>C
NG_007289.2:g.24766C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.422C>G (MASP2)
ENST00000699958.1:c.1378C>G (MASP2)	ENSP00000514717.1:p.Leu460Val
ENST00000700088.1:c.1298-615C>G (MASP2)	ENSP00000514787.1:n.1298-615C>G
ENST00000700089.1:c.1480C>G (MASP2)	ENSP00000514788.1:n.1480C>G
ENST00000700090.1:c.1362C>G (MASP2)	ENSP00000514789.1:n.1362C>G
ENST00000700091.1:c.1285C>G (MASP2)	ENSP00000514790.1:p.Leu429Val
ENST00000700092.1:c.1462C>G (MASP2)	ENSP00000514791.1:p.Leu488Val
ENST00000700093.1:c.1459C>G (MASP2)	ENSP00000514792.1:p.Leu487Val
ENST00000700094.1:c.1491C>G (MASP2)	ENSP00000514793.1:n.1491C>G
ENST00000700095.1:c.1298-615C>G (MASP2)	ENSP00000514794.1:n.1298-615C>G
ENST00000700096.1:c.1101-615C>G (MASP2)	ENSP00000514795.1:n.1101-615C>G
ENST00000700097.1:c.1511C>G (MASP2)	ENSP00000514796.1:n.1511C>G
ENST00000400897.8:c.1483C>G (MASP2) MANE Select	ENSP00000383690.3:p.Leu495Val
ENST00000400897.7:c.1483C>G (MASP2)	ENSP00000383690.3:p.Leu495Val
ENST00000611136.4:c.448+2255G>C
ENST00000612542.1:c.206+2255G>C
ENST00000614757.4:c.*452+2255G>C	ENSP00000481867.1:n.*452+2255G>C
ENST00000620028.1:n.416+2255G>C
ENST00000622108.1:c.232-2224G>C	ENSP00000480398.1:n.232-2224G>C
NM_006610.3:c.1483C>G (MASP2)	NP_006601.2:p.Leu495Val
XM_017000863.2:c.*3011+1798G>C (TARDBP)	XP_016856352.1:n.*3011+1798G>C
XM_017000864.2:c.*1895+1798G>C (TARDBP)	XP_016856353.1:n.*1895+1798G>C
XM_017000865.2:c.*1781-2224G>C (TARDBP)	XP_016856354.1:n.*1781-2224G>C
NM_006610.4:c.1483C>G (MASP2) MANE Select	NP_006601.2:p.Leu495Val