Canonical Allele Identifier: CA338375714

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027607-C-T
• COSMIC: COSM4525568
• MyVariant Identifiers: chr1:g.11087664C>T (hg19) ; chr1:g.11027607C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027607C>T , CM000663.2:g.11027607C>T	GRCh38
NC_000001.10:g.11087664C>T , CM000663.1:g.11087664C>T	GRCh37
NC_000001.9:g.11010251C>T	NCBI36
NG_007289.1:g.24622G>A
NG_007289.2:g.24622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.278G>A (MASP2)
ENST00000699958.1:c.1234G>A (MASP2)	ENSP00000514717.1:p.Gly412Arg
ENST00000700088.1:c.1298-759G>A (MASP2)	ENSP00000514787.1:n.1298-759G>A
ENST00000700089.1:c.1336G>A (MASP2)	ENSP00000514788.1:n.1336G>A
ENST00000700090.1:c.1218G>A (MASP2)	ENSP00000514789.1:n.1218G>A
ENST00000700091.1:c.1141G>A (MASP2)	ENSP00000514790.1:p.Gly381Arg
ENST00000700092.1:c.1318G>A (MASP2)	ENSP00000514791.1:p.Gly440Arg
ENST00000700093.1:c.1315G>A (MASP2)	ENSP00000514792.1:p.Gly439Arg
ENST00000700094.1:c.1347G>A (MASP2)	ENSP00000514793.1:n.1347G>A
ENST00000700095.1:c.1298-759G>A (MASP2)	ENSP00000514794.1:n.1298-759G>A
ENST00000700096.1:c.1101-759G>A (MASP2)	ENSP00000514795.1:n.1101-759G>A
ENST00000700097.1:c.1367G>A (MASP2)	ENSP00000514796.1:p.Trp456Ter
ENST00000400897.8:c.1339G>A (MASP2) MANE Select	ENSP00000383690.3:p.Gly447Arg
ENST00000400897.7:c.1339G>A (MASP2)	ENSP00000383690.3:p.Gly447Arg
ENST00000611136.4:c.448+2399C>T
ENST00000612542.1:c.206+2399C>T
ENST00000614757.4:c.*452+2399C>T	ENSP00000481867.1:n.*452+2399C>T
ENST00000620028.1:n.416+2399C>T
ENST00000622108.1:c.232-2080C>T	ENSP00000480398.1:n.232-2080C>T
NM_006610.3:c.1339G>A (MASP2)	NP_006601.2:p.Gly447Arg
XM_017000863.2:c.*3011+1942C>T (TARDBP)	XP_016856352.1:n.*3011+1942C>T
XM_017000864.2:c.*1895+1942C>T (TARDBP)	XP_016856353.1:n.*1895+1942C>T
XM_017000865.2:c.*1781-2080C>T (TARDBP)	XP_016856354.1:n.*1781-2080C>T
NM_006610.4:c.1339G>A (MASP2) MANE Select	NP_006601.2:p.Gly447Arg