Canonical Allele Identifier: CA338375171

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027517-A-G
• MyVariant Identifiers: chr1:g.11087574A>G (hg19) ; chr1:g.11027517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027517A>G , CM000663.2:g.11027517A>G	GRCh38
NC_000001.10:g.11087574A>G , CM000663.1:g.11087574A>G	GRCh37
NC_000001.9:g.11010161A>G	NCBI36
NG_007289.1:g.24712T>C
NG_007289.2:g.24712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.368T>C (MASP2)
ENST00000699958.1:c.1324T>C (MASP2)	ENSP00000514717.1:p.Trp442Arg
ENST00000700088.1:c.1298-669T>C (MASP2)	ENSP00000514787.1:n.1298-669T>C
ENST00000700089.1:c.1426T>C (MASP2)	ENSP00000514788.1:n.1426T>C
ENST00000700090.1:c.1308T>C (MASP2)	ENSP00000514789.1:n.1308T>C
ENST00000700091.1:c.1231T>C (MASP2)	ENSP00000514790.1:p.Trp411Arg
ENST00000700092.1:c.1408T>C (MASP2)	ENSP00000514791.1:p.Trp470Arg
ENST00000700093.1:c.1405T>C (MASP2)	ENSP00000514792.1:p.Trp469Arg
ENST00000700094.1:c.1437T>C (MASP2)	ENSP00000514793.1:n.1437T>C
ENST00000700095.1:c.1298-669T>C (MASP2)	ENSP00000514794.1:n.1298-669T>C
ENST00000700096.1:c.1101-669T>C (MASP2)	ENSP00000514795.1:n.1101-669T>C
ENST00000700097.1:c.1457T>C (MASP2)	ENSP00000514796.1:n.1457T>C
ENST00000400897.8:c.1429T>C (MASP2) MANE Select	ENSP00000383690.3:p.Trp477Arg
ENST00000400897.7:c.1429T>C (MASP2)	ENSP00000383690.3:p.Trp477Arg
ENST00000611136.4:c.448+2309A>G
ENST00000612542.1:c.206+2309A>G
ENST00000614757.4:c.*452+2309A>G	ENSP00000481867.1:n.*452+2309A>G
ENST00000620028.1:n.416+2309A>G
ENST00000622108.1:c.232-2170A>G	ENSP00000480398.1:n.232-2170A>G
NM_006610.3:c.1429T>C (MASP2)	NP_006601.2:p.Trp477Arg
XM_017000863.2:c.*3011+1852A>G (TARDBP)	XP_016856352.1:n.*3011+1852A>G
XM_017000864.2:c.*1895+1852A>G (TARDBP)	XP_016856353.1:n.*1895+1852A>G
XM_017000865.2:c.*1781-2170A>G (TARDBP)	XP_016856354.1:n.*1781-2170A>G
NM_006610.4:c.1429T>C (MASP2) MANE Select	NP_006601.2:p.Trp477Arg