Canonical Allele Identifier: CA1153468829

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027322C= , CM000663.2:g.11027322C=	GRCh38
NC_000001.10:g.11087379C= , CM000663.1:g.11087379C=	GRCh37
NC_000001.9:g.11009966C=	NCBI36
NG_007289.1:g.24907G=
NG_008734.1:g.19701C= , LRG_659:g.19701C=
NG_007289.2:g.24907G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.563G= (MASP2)
ENST00000699958.1:c.1519G= (MASP2)	ENSP00000514717.1:p.Val507=
ENST00000700088.1:c.1298-474G= (MASP2)	ENSP00000514787.1:n.1298-474G=
ENST00000700089.1:c.1621G= (MASP2)	ENSP00000514788.1:n.1621G=
ENST00000700090.1:c.1503G= (MASP2)	ENSP00000514789.1:n.1503G=
ENST00000700091.1:c.1426G= (MASP2)	ENSP00000514790.1:p.Val476=
ENST00000700092.1:c.1603G= (MASP2)	ENSP00000514791.1:p.Val535=
ENST00000700093.1:c.1600G= (MASP2)	ENSP00000514792.1:p.Val534=
ENST00000700094.1:c.1632G= (MASP2)	ENSP00000514793.1:n.1632G=
ENST00000700095.1:c.1298-474G= (MASP2)	ENSP00000514794.1:n.1298-474G=
ENST00000700096.1:c.1101-474G= (MASP2)	ENSP00000514795.1:n.1101-474G=
ENST00000700097.1:c.1652G= (MASP2)	ENSP00000514796.1:n.1652G=
ENST00000400897.8:c.1624G= (MASP2) MANE Select	ENSP00000383690.3:p.Val542=
ENST00000400897.7:c.1624G= (MASP2)	ENSP00000383690.3:p.Val542=
ENST00000611136.4:c.448+2114C=
ENST00000612542.1:c.206+2114C=
ENST00000614757.4:c.*452+2114C=	ENSP00000481867.1:n.*452+2114C=
ENST00000620028.1:n.416+2114C=
ENST00000622108.1:c.231+2114C=	ENSP00000480398.1:n.231+2114C=
NM_006610.3:c.1624G= (MASP2)	NP_006601.2:p.Val542=
XM_017000863.2:c.*3011+1657C= (TARDBP)	XP_016856352.1:n.*3011+1657C=
XM_017000864.2:c.*1895+1657C= (TARDBP)	XP_016856353.1:n.*1895+1657C=
XM_017000865.2:c.*1780+2114C= (TARDBP)	XP_016856354.1:n.*1780+2114C=
NM_006610.4:c.1624G= (MASP2) MANE Select	NP_006601.2:p.Val542=