Canonical Allele Identifier: CA338374616

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs765443160
• gnomAD v2: 1-11087510-C-A
• gnomAD v3: 1-11027453-C-A
• gnomAD v4: 1-11027453-C-A
• MyVariant Identifiers: chr1:g.11087510C>A (hg19) ; chr1:g.11027453C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027453C>A , CM000663.2:g.11027453C>A	GRCh38
NC_000001.10:g.11087510C>A , CM000663.1:g.11087510C>A	GRCh37
NC_000001.9:g.11010097C>A	NCBI36
NG_007289.1:g.24776G>T
NG_008734.1:g.19832C>A , LRG_659:g.19832C>A
NG_007289.2:g.24776G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.432G>T (MASP2)
ENST00000699958.1:c.1388G>T (MASP2)	ENSP00000514717.1:p.Arg463Leu
ENST00000700088.1:c.1298-605G>T (MASP2)	ENSP00000514787.1:n.1298-605G>T
ENST00000700089.1:c.1490G>T (MASP2)	ENSP00000514788.1:n.1490G>T
ENST00000700090.1:c.1372G>T (MASP2)	ENSP00000514789.1:n.1372G>T
ENST00000700091.1:c.1295G>T (MASP2)	ENSP00000514790.1:p.Arg432Leu
ENST00000700092.1:c.1472G>T (MASP2)	ENSP00000514791.1:p.Arg491Leu
ENST00000700093.1:c.1469G>T (MASP2)	ENSP00000514792.1:p.Arg490Leu
ENST00000700094.1:c.1501G>T (MASP2)	ENSP00000514793.1:n.1501G>T
ENST00000700095.1:c.1298-605G>T (MASP2)	ENSP00000514794.1:n.1298-605G>T
ENST00000700096.1:c.1101-605G>T (MASP2)	ENSP00000514795.1:n.1101-605G>T
ENST00000700097.1:c.1521G>T (MASP2)	ENSP00000514796.1:n.1521G>T
ENST00000400897.8:c.1493G>T (MASP2) MANE Select	ENSP00000383690.3:p.Arg498Leu
ENST00000400897.7:c.1493G>T (MASP2)	ENSP00000383690.3:p.Arg498Leu
ENST00000611136.4:c.448+2245C>A
ENST00000612542.1:c.206+2245C>A
ENST00000614757.4:c.*452+2245C>A	ENSP00000481867.1:n.*452+2245C>A
ENST00000620028.1:n.416+2245C>A
ENST00000622108.1:c.232-2234C>A	ENSP00000480398.1:n.232-2234C>A
NM_006610.3:c.1493G>T (MASP2)	NP_006601.2:p.Arg498Leu
XM_017000863.2:c.*3011+1788C>A (TARDBP)	XP_016856352.1:n.*3011+1788C>A
XM_017000864.2:c.*1895+1788C>A (TARDBP)	XP_016856353.1:n.*1895+1788C>A
XM_017000865.2:c.*1781-2234C>A (TARDBP)	XP_016856354.1:n.*1781-2234C>A
NM_006610.4:c.1493G>T (MASP2) MANE Select	NP_006601.2:p.Arg498Leu