Canonical Allele Identifier: CA586683

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs373165303
• ExAC: 1:11087650 T / G
• gnomAD v2: 1-11087650-T-G
• gnomAD v3: 1-11027593-T-G
• gnomAD v4: 1-11027593-T-G
• MyVariant Identifiers: chr1:g.11087650T>G (hg19) ; chr1:g.11027593T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027593T>G , CM000663.2:g.11027593T>G	GRCh38
NC_000001.10:g.11087650T>G , CM000663.1:g.11087650T>G	GRCh37
NC_000001.9:g.11010237T>G	NCBI36
NG_007289.1:g.24636A>C
NG_007289.2:g.24636A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.292A>C (MASP2)
ENST00000699958.1:c.1248A>C (MASP2)	ENSP00000514717.1:p.Ala416=
ENST00000700088.1:c.1298-745A>C (MASP2)	ENSP00000514787.1:n.1298-745A>C
ENST00000700089.1:c.1350A>C (MASP2)	ENSP00000514788.1:n.1350A>C
ENST00000700090.1:c.1232A>C (MASP2)	ENSP00000514789.1:n.1232A>C
ENST00000700091.1:c.1155A>C (MASP2)	ENSP00000514790.1:p.Ala385=
ENST00000700092.1:c.1332A>C (MASP2)	ENSP00000514791.1:p.Ala444=
ENST00000700093.1:c.1329A>C (MASP2)	ENSP00000514792.1:p.Ala443=
ENST00000700094.1:c.1361A>C (MASP2)	ENSP00000514793.1:n.1361A>C
ENST00000700095.1:c.1298-745A>C (MASP2)	ENSP00000514794.1:n.1298-745A>C
ENST00000700096.1:c.1101-745A>C (MASP2)	ENSP00000514795.1:n.1101-745A>C
ENST00000700097.1:c.1381A>C (MASP2)	ENSP00000514796.1:p.Lys461Gln
ENST00000400897.8:c.1353A>C (MASP2) MANE Select	ENSP00000383690.3:p.Ala451=
ENST00000400897.7:c.1353A>C (MASP2)	ENSP00000383690.3:p.Ala451=
ENST00000611136.4:c.448+2385T>G
ENST00000612542.1:c.206+2385T>G
ENST00000614757.4:c.*452+2385T>G	ENSP00000481867.1:n.*452+2385T>G
ENST00000620028.1:n.416+2385T>G
ENST00000622108.1:c.232-2094T>G	ENSP00000480398.1:n.232-2094T>G
NM_006610.3:c.1353A>C (MASP2)	NP_006601.2:p.Ala451=
XM_017000863.2:c.*3011+1928T>G (TARDBP)	XP_016856352.1:n.*3011+1928T>G
XM_017000864.2:c.*1895+1928T>G (TARDBP)	XP_016856353.1:n.*1895+1928T>G
XM_017000865.2:c.*1781-2094T>G (TARDBP)	XP_016856354.1:n.*1781-2094T>G
NM_006610.4:c.1353A>C (MASP2) MANE Select	NP_006601.2:p.Ala451=