Canonical Allele Identifier: CA338375670

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs2100868096
• gnomAD v3: 1-11027597-T-A
• gnomAD v4: 1-11027597-T-A
• MyVariant Identifiers: chr1:g.11087654T>A (hg19) ; chr1:g.11027597T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027597T>A , CM000663.2:g.11027597T>A	GRCh38
NC_000001.10:g.11087654T>A , CM000663.1:g.11087654T>A	GRCh37
NC_000001.9:g.11010241T>A	NCBI36
NG_007289.1:g.24632A>T
NG_007289.2:g.24632A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.288A>T (MASP2)
ENST00000699958.1:c.1244A>T (MASP2)	ENSP00000514717.1:p.Lys415Met
ENST00000700088.1:c.1298-749A>T (MASP2)	ENSP00000514787.1:n.1298-749A>T
ENST00000700089.1:c.1346A>T (MASP2)	ENSP00000514788.1:n.1346A>T
ENST00000700090.1:c.1228A>T (MASP2)	ENSP00000514789.1:n.1228A>T
ENST00000700091.1:c.1151A>T (MASP2)	ENSP00000514790.1:p.Lys384Met
ENST00000700092.1:c.1328A>T (MASP2)	ENSP00000514791.1:p.Lys443Met
ENST00000700093.1:c.1325A>T (MASP2)	ENSP00000514792.1:p.Lys442Met
ENST00000700094.1:c.1357A>T (MASP2)	ENSP00000514793.1:n.1357A>T
ENST00000700095.1:c.1298-749A>T (MASP2)	ENSP00000514794.1:n.1298-749A>T
ENST00000700096.1:c.1101-749A>T (MASP2)	ENSP00000514795.1:n.1101-749A>T
ENST00000700097.1:c.1377A>T (MASP2)	ENSP00000514796.1:p.Lys459Asn
ENST00000400897.8:c.1349A>T (MASP2) MANE Select	ENSP00000383690.3:p.Lys450Met
ENST00000400897.7:c.1349A>T (MASP2)	ENSP00000383690.3:p.Lys450Met
ENST00000611136.4:c.448+2389T>A
ENST00000612542.1:c.206+2389T>A
ENST00000614757.4:c.*452+2389T>A	ENSP00000481867.1:n.*452+2389T>A
ENST00000620028.1:n.416+2389T>A
ENST00000622108.1:c.232-2090T>A	ENSP00000480398.1:n.232-2090T>A
NM_006610.3:c.1349A>T (MASP2)	NP_006601.2:p.Lys450Met
XM_017000863.2:c.*3011+1932T>A (TARDBP)	XP_016856352.1:n.*3011+1932T>A
XM_017000864.2:c.*1895+1932T>A (TARDBP)	XP_016856353.1:n.*1895+1932T>A
XM_017000865.2:c.*1781-2090T>A (TARDBP)	XP_016856354.1:n.*1781-2090T>A
NM_006610.4:c.1349A>T (MASP2) MANE Select	NP_006601.2:p.Lys450Met