Canonical Allele Identifier: CA586491
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Linked Data

ClinVar Variation Id: 2202699
ClinVar RCV Id: RCV002664150
dbSNP Id: rs766196255
gnomAD v2: 1-11082589-A-G
gnomAD v3: 1-11022532-A-G
gnomAD v4: 1-11022532-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11022532A>G , CM000663.2:g.11022532A>G GRCh38
NC_000001.10:g.11082589A>G , CM000663.1:g.11082589A>G GRCh37
NC_000001.9:g.11005176A>G NCBI36
NG_008734.1:g.14911A>G , LRG_659:g.14911A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700088.1:c.1397-339T>C (MASP2) ENSP00000514787.1:n.1397-339T>C
ENST00000240185.8:c.1123A>G (TARDBP) MANE Select ENSP00000240185.4:p.Ser375Gly
ENST00000639083.1:c.1123A>G (TARDBP) ENSP00000491203.1:p.Ser375Gly
ENST00000639599.1:c.832+291A>G (TARDBP) ENSP00000492196.1:n.832+291A>G
ENST00000649624.1:c.768+355A>G (TARDBP) ENSP00000497327.1:n.768+355A>G
ENST00000240185.7:c.1123A>G (TARDBP) ENSP00000240185.3:p.Ser375Gly
ENST00000315091.7:c.832+291A>G (TARDBP) ENSP00000313129.3:n.832+291A>G
ENST00000439080.6:c.*704A>G (TARDBP) ENSP00000404666.3:n.*704A>G
ENST00000473869.5:c.841+282A>G (TARDBP) ENSP00000432132.1:n.841+282A>G
ENST00000477447.6:c.140+282A>G (TARDBP)
ENST00000610369.4:c.319+282A>G (TARDBP) ENSP00000482559.1:n.319+282A>G
ENST00000611136.4:c.212+291A>G
ENST00000611963.4:c.472+291A>G (TARDBP) ENSP00000481330.1:n.472+291A>G
ENST00000612542.1:c.107+282A>G
ENST00000614494.1:c.221+355A>G (TARDBP)
ENST00000614757.4:c.841+282A>G ENSP00000481867.1:n.841+282A>G
ENST00000616545.4:c.841+282A>G (TARDBP) ENSP00000484722.1:n.841+282A>G
ENST00000617172.4:c.582+282A>G (TARDBP)
ENST00000619555.4:c.392+282A>G (TARDBP)
ENST00000620505.1:c.225A>G (TARDBP)
ENST00000620632.4:c.392+282A>G (TARDBP)
ENST00000621790.4:c.859+264A>G (TARDBP) ENSP00000482191.1:n.859+264A>G
ENST00000622057.4:c.579+291A>G (TARDBP)
ENST00000629725.2:c.841+282A>G (TARDBP) ENSP00000486989.1:n.841+282A>G
NM_007375.3:c.1123A>G , LRG_659t1:c.1123A>G (TARDBP) NP_031401.1:p.Ser375Gly
XR_946596.1:n.1245A>G (TARDBP)
XR_946597.1:n.1245A>G (TARDBP)
XM_017000863.2:c.1123A>G (TARDBP) XP_016856352.1:p.Ser375Gly
XM_017000864.2:c.1123A>G (TARDBP) XP_016856353.1:p.Ser375Gly
XM_017000865.2:c.1123A>G (TARDBP) XP_016856354.1:p.Ser375Gly
XM_017000866.2:c.1123A>G (TARDBP) XP_016856355.1:p.Ser375Gly
XM_017000867.2:c.1123A>G (TARDBP) XP_016856356.1:p.Ser375Gly
XM_017000868.2:c.1123A>G (TARDBP) XP_016856357.1:p.Ser375Gly
NM_007375.4:c.1123A>G (TARDBP) MANE Select NP_031401.1:p.Ser375Gly