Canonical Allele Identifier: CA338375299

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027528-A-C
• MyVariant Identifiers: chr1:g.11087585A>C (hg19) ; chr1:g.11027528A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027528A>C , CM000663.2:g.11027528A>C	GRCh38
NC_000001.10:g.11087585A>C , CM000663.1:g.11087585A>C	GRCh37
NC_000001.9:g.11010172A>C	NCBI36
NG_007289.1:g.24701T>G
NG_007289.2:g.24701T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.357T>G (MASP2)
ENST00000699958.1:c.1313T>G (MASP2)	ENSP00000514717.1:p.Leu438Ter
ENST00000700088.1:c.1298-680T>G (MASP2)	ENSP00000514787.1:n.1298-680T>G
ENST00000700089.1:c.1415T>G (MASP2)	ENSP00000514788.1:n.1415T>G
ENST00000700090.1:c.1297T>G (MASP2)	ENSP00000514789.1:n.1297T>G
ENST00000700091.1:c.1220T>G (MASP2)	ENSP00000514790.1:p.Leu407Ter
ENST00000700092.1:c.1397T>G (MASP2)	ENSP00000514791.1:p.Leu466Ter
ENST00000700093.1:c.1394T>G (MASP2)	ENSP00000514792.1:p.Leu465Ter
ENST00000700094.1:c.1426T>G (MASP2)	ENSP00000514793.1:n.1426T>G
ENST00000700095.1:c.1298-680T>G (MASP2)	ENSP00000514794.1:n.1298-680T>G
ENST00000700096.1:c.1101-680T>G (MASP2)	ENSP00000514795.1:n.1101-680T>G
ENST00000700097.1:c.1446T>G (MASP2)	ENSP00000514796.1:n.1446T>G
ENST00000400897.8:c.1418T>G (MASP2) MANE Select	ENSP00000383690.3:p.Leu473Ter
ENST00000400897.7:c.1418T>G (MASP2)	ENSP00000383690.3:p.Leu473Ter
ENST00000611136.4:c.448+2320A>C
ENST00000612542.1:c.206+2320A>C
ENST00000614757.4:c.*452+2320A>C	ENSP00000481867.1:n.*452+2320A>C
ENST00000620028.1:n.416+2320A>C
ENST00000622108.1:c.232-2159A>C	ENSP00000480398.1:n.232-2159A>C
NM_006610.3:c.1418T>G (MASP2)	NP_006601.2:p.Leu473Ter
XM_017000863.2:c.*3011+1863A>C (TARDBP)	XP_016856352.1:n.*3011+1863A>C
XM_017000864.2:c.*1895+1863A>C (TARDBP)	XP_016856353.1:n.*1895+1863A>C
XM_017000865.2:c.*1781-2159A>C (TARDBP)	XP_016856354.1:n.*1781-2159A>C
NM_006610.4:c.1418T>G (MASP2) MANE Select	NP_006601.2:p.Leu473Ter