Canonical Allele Identifier: CA338375592

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027571-G-T
• MyVariant Identifiers: chr1:g.11087628G>T (hg19) ; chr1:g.11027571G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027571G>T , CM000663.2:g.11027571G>T	GRCh38
NC_000001.10:g.11087628G>T , CM000663.1:g.11087628G>T	GRCh37
NC_000001.9:g.11010215G>T	NCBI36
NG_007289.1:g.24658C>A
NG_007289.2:g.24658C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.314C>A (MASP2)
ENST00000699958.1:c.1270C>A (MASP2)	ENSP00000514717.1:p.Gln424Lys
ENST00000700088.1:c.1298-723C>A (MASP2)	ENSP00000514787.1:n.1298-723C>A
ENST00000700089.1:c.1372C>A (MASP2)	ENSP00000514788.1:n.1372C>A
ENST00000700090.1:c.1254C>A (MASP2)	ENSP00000514789.1:n.1254C>A
ENST00000700091.1:c.1177C>A (MASP2)	ENSP00000514790.1:p.Gln393Lys
ENST00000700092.1:c.1354C>A (MASP2)	ENSP00000514791.1:p.Gln452Lys
ENST00000700093.1:c.1351C>A (MASP2)	ENSP00000514792.1:p.Gln451Lys
ENST00000700094.1:c.1383C>A (MASP2)	ENSP00000514793.1:n.1383C>A
ENST00000700095.1:c.1298-723C>A (MASP2)	ENSP00000514794.1:n.1298-723C>A
ENST00000700096.1:c.1101-723C>A (MASP2)	ENSP00000514795.1:n.1101-723C>A
ENST00000700097.1:c.1403C>A (MASP2)	ENSP00000514796.1:n.1403C>A
ENST00000400897.8:c.1375C>A (MASP2) MANE Select	ENSP00000383690.3:p.Gln459Lys
ENST00000400897.7:c.1375C>A (MASP2)	ENSP00000383690.3:p.Gln459Lys
ENST00000611136.4:c.448+2363G>T
ENST00000612542.1:c.206+2363G>T
ENST00000614757.4:c.*452+2363G>T	ENSP00000481867.1:n.*452+2363G>T
ENST00000620028.1:n.416+2363G>T
ENST00000622108.1:c.232-2116G>T	ENSP00000480398.1:n.232-2116G>T
NM_006610.3:c.1375C>A (MASP2)	NP_006601.2:p.Gln459Lys
XM_017000863.2:c.*3011+1906G>T (TARDBP)	XP_016856352.1:n.*3011+1906G>T
XM_017000864.2:c.*1895+1906G>T (TARDBP)	XP_016856353.1:n.*1895+1906G>T
XM_017000865.2:c.*1781-2116G>T (TARDBP)	XP_016856354.1:n.*1781-2116G>T
NM_006610.4:c.1375C>A (MASP2) MANE Select	NP_006601.2:p.Gln459Lys