Canonical Allele Identifier: CA338374542

Gene: MASP2 TARDBP

Linked Data

• MyVariant Identifiers: chr1:g.11087494T>G (hg19) ; chr1:g.11027437T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027437T>G , CM000663.2:g.11027437T>G	GRCh38
NC_000001.10:g.11087494T>G , CM000663.1:g.11087494T>G	GRCh37
NC_000001.9:g.11010081T>G	NCBI36
NG_007289.1:g.24792A>C
NG_008734.1:g.19816T>G , LRG_659:g.19816T>G
NG_007289.2:g.24792A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.448A>C (MASP2)
ENST00000699958.1:c.1404A>C (MASP2)	ENSP00000514717.1:p.Lys468Asn
ENST00000700088.1:c.1298-589A>C (MASP2)	ENSP00000514787.1:n.1298-589A>C
ENST00000700089.1:c.1506A>C (MASP2)	ENSP00000514788.1:n.1506A>C
ENST00000700090.1:c.1388A>C (MASP2)	ENSP00000514789.1:n.1388A>C
ENST00000700091.1:c.1311A>C (MASP2)	ENSP00000514790.1:p.Lys437Asn
ENST00000700092.1:c.1488A>C (MASP2)	ENSP00000514791.1:p.Lys496Asn
ENST00000700093.1:c.1485A>C (MASP2)	ENSP00000514792.1:p.Lys495Asn
ENST00000700094.1:c.1517A>C (MASP2)	ENSP00000514793.1:n.1517A>C
ENST00000700095.1:c.1298-589A>C (MASP2)	ENSP00000514794.1:n.1298-589A>C
ENST00000700096.1:c.1101-589A>C (MASP2)	ENSP00000514795.1:n.1101-589A>C
ENST00000700097.1:c.1537A>C (MASP2)	ENSP00000514796.1:n.1537A>C
ENST00000400897.8:c.1509A>C (MASP2) MANE Select	ENSP00000383690.3:p.Lys503Asn
ENST00000400897.7:c.1509A>C (MASP2)	ENSP00000383690.3:p.Lys503Asn
ENST00000611136.4:c.448+2229T>G
ENST00000612542.1:c.206+2229T>G
ENST00000614757.4:c.*452+2229T>G	ENSP00000481867.1:n.*452+2229T>G
ENST00000620028.1:n.416+2229T>G
ENST00000622108.1:c.231+2229T>G	ENSP00000480398.1:n.231+2229T>G
NM_006610.3:c.1509A>C (MASP2)	NP_006601.2:p.Lys503Asn
XM_017000863.2:c.*3011+1772T>G (TARDBP)	XP_016856352.1:n.*3011+1772T>G
XM_017000864.2:c.*1895+1772T>G (TARDBP)	XP_016856353.1:n.*1895+1772T>G
XM_017000865.2:c.*1780+2229T>G (TARDBP)	XP_016856354.1:n.*1780+2229T>G
NM_006610.4:c.1509A>C (MASP2) MANE Select	NP_006601.2:p.Lys503Asn