Canonical Allele Identifier: CA338374561

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027441-A-G
• MyVariant Identifiers: chr1:g.11087498A>G (hg19) ; chr1:g.11027441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027441A>G , CM000663.2:g.11027441A>G	GRCh38
NC_000001.10:g.11087498A>G , CM000663.1:g.11087498A>G	GRCh37
NC_000001.9:g.11010085A>G	NCBI36
NG_007289.1:g.24788T>C
NG_008734.1:g.19820A>G , LRG_659:g.19820A>G
NG_007289.2:g.24788T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.444T>C (MASP2)
ENST00000699958.1:c.1400T>C (MASP2)	ENSP00000514717.1:p.Leu467Pro
ENST00000700088.1:c.1298-593T>C (MASP2)	ENSP00000514787.1:n.1298-593T>C
ENST00000700089.1:c.1502T>C (MASP2)	ENSP00000514788.1:n.1502T>C
ENST00000700090.1:c.1384T>C (MASP2)	ENSP00000514789.1:n.1384T>C
ENST00000700091.1:c.1307T>C (MASP2)	ENSP00000514790.1:p.Leu436Pro
ENST00000700092.1:c.1484T>C (MASP2)	ENSP00000514791.1:p.Leu495Pro
ENST00000700093.1:c.1481T>C (MASP2)	ENSP00000514792.1:p.Leu494Pro
ENST00000700094.1:c.1513T>C (MASP2)	ENSP00000514793.1:n.1513T>C
ENST00000700095.1:c.1298-593T>C (MASP2)	ENSP00000514794.1:n.1298-593T>C
ENST00000700096.1:c.1101-593T>C (MASP2)	ENSP00000514795.1:n.1101-593T>C
ENST00000700097.1:c.1533T>C (MASP2)	ENSP00000514796.1:n.1533T>C
ENST00000400897.8:c.1505T>C (MASP2) MANE Select	ENSP00000383690.3:p.Leu502Pro
ENST00000400897.7:c.1505T>C (MASP2)	ENSP00000383690.3:p.Leu502Pro
ENST00000611136.4:c.448+2233A>G
ENST00000612542.1:c.206+2233A>G
ENST00000614757.4:c.*452+2233A>G	ENSP00000481867.1:n.*452+2233A>G
ENST00000620028.1:n.416+2233A>G
ENST00000622108.1:c.231+2233A>G	ENSP00000480398.1:n.231+2233A>G
NM_006610.3:c.1505T>C (MASP2)	NP_006601.2:p.Leu502Pro
XM_017000863.2:c.*3011+1776A>G (TARDBP)	XP_016856352.1:n.*3011+1776A>G
XM_017000864.2:c.*1895+1776A>G (TARDBP)	XP_016856353.1:n.*1895+1776A>G
XM_017000865.2:c.*1780+2233A>G (TARDBP)	XP_016856354.1:n.*1780+2233A>G
NM_006610.4:c.1505T>C (MASP2) MANE Select	NP_006601.2:p.Leu502Pro