Canonical Allele Identifier: CA586679

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs750318110
• ExAC: 1:11087619 T / C
• gnomAD v2: 1-11087619-T-C
• gnomAD v4: 1-11027562-T-C
• MyVariant Identifiers: chr1:g.11087619T>C (hg19) ; chr1:g.11027562T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027562T>C , CM000663.2:g.11027562T>C	GRCh38
NC_000001.10:g.11087619T>C , CM000663.1:g.11087619T>C	GRCh37
NC_000001.9:g.11010206T>C	NCBI36
NG_007289.1:g.24667A>G
NG_007289.2:g.24667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.323A>G (MASP2)
ENST00000699958.1:c.1279A>G (MASP2)	ENSP00000514717.1:p.Ile427Val
ENST00000700088.1:c.1298-714A>G (MASP2)	ENSP00000514787.1:n.1298-714A>G
ENST00000700089.1:c.1381A>G (MASP2)	ENSP00000514788.1:n.1381A>G
ENST00000700090.1:c.1263A>G (MASP2)	ENSP00000514789.1:n.1263A>G
ENST00000700091.1:c.1186A>G (MASP2)	ENSP00000514790.1:p.Ile396Val
ENST00000700092.1:c.1363A>G (MASP2)	ENSP00000514791.1:p.Ile455Val
ENST00000700093.1:c.1360A>G (MASP2)	ENSP00000514792.1:p.Ile454Val
ENST00000700094.1:c.1392A>G (MASP2)	ENSP00000514793.1:n.1392A>G
ENST00000700095.1:c.1298-714A>G (MASP2)	ENSP00000514794.1:n.1298-714A>G
ENST00000700096.1:c.1101-714A>G (MASP2)	ENSP00000514795.1:n.1101-714A>G
ENST00000700097.1:c.1412A>G (MASP2)	ENSP00000514796.1:n.1412A>G
ENST00000400897.8:c.1384A>G (MASP2) MANE Select	ENSP00000383690.3:p.Ile462Val
ENST00000400897.7:c.1384A>G (MASP2)	ENSP00000383690.3:p.Ile462Val
ENST00000611136.4:c.448+2354T>C
ENST00000612542.1:c.206+2354T>C
ENST00000614757.4:c.*452+2354T>C	ENSP00000481867.1:n.*452+2354T>C
ENST00000620028.1:n.416+2354T>C
ENST00000622108.1:c.232-2125T>C	ENSP00000480398.1:n.232-2125T>C
NM_006610.3:c.1384A>G (MASP2)	NP_006601.2:p.Ile462Val
XM_017000863.2:c.*3011+1897T>C (TARDBP)	XP_016856352.1:n.*3011+1897T>C
XM_017000864.2:c.*1895+1897T>C (TARDBP)	XP_016856353.1:n.*1895+1897T>C
XM_017000865.2:c.*1781-2125T>C (TARDBP)	XP_016856354.1:n.*1781-2125T>C
NM_006610.4:c.1384A>G (MASP2) MANE Select	NP_006601.2:p.Ile462Val