Canonical Allele Identifier: CA338375553

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027562-T-G
• MyVariant Identifiers: chr1:g.11087619T>G (hg19) ; chr1:g.11027562T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.323A>C (MASP2)
ENST00000699958.1:c.1279A>C (MASP2)	ENSP00000514717.1:p.Ile427Leu
ENST00000700088.1:c.1298-714A>C (MASP2)	ENSP00000514787.1:n.1298-714A>C
ENST00000700089.1:c.1381A>C (MASP2)	ENSP00000514788.1:n.1381A>C
ENST00000700090.1:c.1263A>C (MASP2)	ENSP00000514789.1:n.1263A>C
ENST00000700091.1:c.1186A>C (MASP2)	ENSP00000514790.1:p.Ile396Leu
ENST00000700092.1:c.1363A>C (MASP2)	ENSP00000514791.1:p.Ile455Leu
ENST00000700093.1:c.1360A>C (MASP2)	ENSP00000514792.1:p.Ile454Leu
ENST00000700094.1:c.1392A>C (MASP2)	ENSP00000514793.1:n.1392A>C
ENST00000700095.1:c.1298-714A>C (MASP2)	ENSP00000514794.1:n.1298-714A>C
ENST00000700096.1:c.1101-714A>C (MASP2)	ENSP00000514795.1:n.1101-714A>C
ENST00000700097.1:c.1412A>C (MASP2)	ENSP00000514796.1:n.1412A>C
ENST00000400897.8:c.1384A>C (MASP2) MANE Select	ENSP00000383690.3:p.Ile462Leu
ENST00000400897.7:c.1384A>C (MASP2)	ENSP00000383690.3:p.Ile462Leu
ENST00000611136.4:c.448+2354T>G
ENST00000612542.1:c.206+2354T>G
ENST00000614757.4:c.*452+2354T>G	ENSP00000481867.1:n.*452+2354T>G
ENST00000620028.1:n.416+2354T>G
ENST00000622108.1:c.232-2125T>G	ENSP00000480398.1:n.232-2125T>G
NM_006610.3:c.1384A>C (MASP2)	NP_006601.2:p.Ile462Leu
XM_017000863.2:c.*3011+1897T>G (TARDBP)	XP_016856352.1:n.*3011+1897T>G
XM_017000864.2:c.*1895+1897T>G (TARDBP)	XP_016856353.1:n.*1895+1897T>G
XM_017000865.2:c.*1781-2125T>G (TARDBP)	XP_016856354.1:n.*1781-2125T>G
NM_006610.4:c.1384A>C (MASP2) MANE Select	NP_006601.2:p.Ile462Leu