Canonical Allele Identifier: CA586667

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs771244955
• ExAC: 1:11087559 C / T
• gnomAD v2: 1-11087559-C-T
• MyVariant Identifiers: chr1:g.11087559C>T (hg19) ; chr1:g.11027502C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027502C>T , CM000663.2:g.11027502C>T	GRCh38
NC_000001.10:g.11087559C>T , CM000663.1:g.11087559C>T	GRCh37
NC_000001.9:g.11010146C>T	NCBI36
NG_007289.1:g.24727G>A
NG_007289.2:g.24727G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.383G>A (MASP2)
ENST00000699958.1:c.1339G>A (MASP2)	ENSP00000514717.1:p.Ala447Thr
ENST00000700088.1:c.1298-654G>A (MASP2)	ENSP00000514787.1:n.1298-654G>A
ENST00000700089.1:c.1441G>A (MASP2)	ENSP00000514788.1:n.1441G>A
ENST00000700090.1:c.1323G>A (MASP2)	ENSP00000514789.1:n.1323G>A
ENST00000700091.1:c.1246G>A (MASP2)	ENSP00000514790.1:p.Ala416Thr
ENST00000700092.1:c.1423G>A (MASP2)	ENSP00000514791.1:p.Ala475Thr
ENST00000700093.1:c.1420G>A (MASP2)	ENSP00000514792.1:p.Ala474Thr
ENST00000700094.1:c.1452G>A (MASP2)	ENSP00000514793.1:n.1452G>A
ENST00000700095.1:c.1298-654G>A (MASP2)	ENSP00000514794.1:n.1298-654G>A
ENST00000700096.1:c.1101-654G>A (MASP2)	ENSP00000514795.1:n.1101-654G>A
ENST00000700097.1:c.1472G>A (MASP2)	ENSP00000514796.1:n.1472G>A
ENST00000400897.8:c.1444G>A (MASP2) MANE Select	ENSP00000383690.3:p.Ala482Thr
ENST00000400897.7:c.1444G>A (MASP2)	ENSP00000383690.3:p.Ala482Thr
ENST00000611136.4:c.448+2294C>T
ENST00000612542.1:c.206+2294C>T
ENST00000614757.4:c.*452+2294C>T	ENSP00000481867.1:n.*452+2294C>T
ENST00000620028.1:n.416+2294C>T
ENST00000622108.1:c.232-2185C>T	ENSP00000480398.1:n.232-2185C>T
NM_006610.3:c.1444G>A (MASP2)	NP_006601.2:p.Ala482Thr
XM_017000863.2:c.*3011+1837C>T (TARDBP)	XP_016856352.1:n.*3011+1837C>T
XM_017000864.2:c.*1895+1837C>T (TARDBP)	XP_016856353.1:n.*1895+1837C>T
XM_017000865.2:c.*1781-2185C>T (TARDBP)	XP_016856354.1:n.*1781-2185C>T
NM_006610.4:c.1444G>A (MASP2) MANE Select	NP_006601.2:p.Ala482Thr