Canonical Allele Identifier: CA586628
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Linked Data

dbSNP Id: rs762134055
ExAC: 1:11087375 A / G
gnomAD v2: 1-11087375-A-G
gnomAD v4: 1-11027318-A-G
MyVariant Identifiers: chr1:g.11087375A>G (hg19) chr1:g.11027318A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11027318A>G , CM000663.2:g.11027318A>G GRCh38
NC_000001.10:g.11087375A>G , CM000663.1:g.11087375A>G GRCh37
NC_000001.9:g.11009962A>G NCBI36
NG_007289.1:g.24911T>C
NG_008734.1:g.19697A>G , LRG_659:g.19697A>G
NG_007289.2:g.24911T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699927.1:n.567T>C (MASP2)
ENST00000699958.1:c.1523T>C (MASP2) ENSP00000514717.1:p.Val508Ala
ENST00000700088.1:c.1298-470T>C (MASP2) ENSP00000514787.1:n.1298-470T>C
ENST00000700089.1:c.1625T>C (MASP2) ENSP00000514788.1:n.1625T>C
ENST00000700090.1:c.1507T>C (MASP2) ENSP00000514789.1:n.1507T>C
ENST00000700091.1:c.1430T>C (MASP2) ENSP00000514790.1:p.Val477Ala
ENST00000700092.1:c.1607T>C (MASP2) ENSP00000514791.1:p.Val536Ala
ENST00000700093.1:c.1604T>C (MASP2) ENSP00000514792.1:p.Val535Ala
ENST00000700094.1:c.1636T>C (MASP2) ENSP00000514793.1:n.1636T>C
ENST00000700095.1:c.1298-470T>C (MASP2) ENSP00000514794.1:n.1298-470T>C
ENST00000700096.1:c.1101-470T>C (MASP2) ENSP00000514795.1:n.1101-470T>C
ENST00000700097.1:c.1656T>C (MASP2) ENSP00000514796.1:n.1656T>C
ENST00000400897.8:c.1628T>C (MASP2) MANE Select ENSP00000383690.3:p.Val543Ala
ENST00000400897.7:c.1628T>C (MASP2) ENSP00000383690.3:p.Val543Ala
ENST00000611136.4:c.448+2110A>G
ENST00000612542.1:c.206+2110A>G
ENST00000614757.4:c.*452+2110A>G ENSP00000481867.1:n.*452+2110A>G
ENST00000620028.1:n.416+2110A>G
ENST00000622108.1:c.231+2110A>G ENSP00000480398.1:n.231+2110A>G
NM_006610.3:c.1628T>C (MASP2) NP_006601.2:p.Val543Ala
XM_017000863.2:c.*3011+1653A>G (TARDBP) XP_016856352.1:n.*3011+1653A>G
XM_017000864.2:c.*1895+1653A>G (TARDBP) XP_016856353.1:n.*1895+1653A>G
XM_017000865.2:c.*1780+2110A>G (TARDBP) XP_016856354.1:n.*1780+2110A>G
NM_006610.4:c.1628T>C (MASP2) MANE Select NP_006601.2:p.Val543Ala
Search 100 bp 5'
Search 100 bp 3'