Canonical Allele Identifier: CA340373
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Linked Data

ClinVar Variation Id: 5228
ClinVar RCV Id: RCV000005539 RCV000693006 RCV001090806
dbSNP Id: rs80356730
gnomAD v2: 1-11082475-A-G
MyVariant Identifiers: chr1:g.11082475A>G (hg19) chr1:g.11022418A>G (hg38)
PubMed: PMID:18309045 PMID:20301761
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11022418A>G , CM000663.2:g.11022418A>G GRCh38
NC_000001.10:g.11082475A>G , CM000663.1:g.11082475A>G GRCh37
NC_000001.9:g.11005062A>G NCBI36
NG_008734.1:g.14797A>G , LRG_659:g.14797A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000700088.1:c.1397-225T>C (MASP2) ENSP00000514787.1:n.1397-225T>C
ENST00000240185.8:c.1009A>G (TARDBP) MANE Select ENSP00000240185.4:p.Met337Val
ENST00000639083.1:c.1009A>G (TARDBP) ENSP00000491203.1:p.Met337Val
ENST00000639599.1:c.832+177A>G (TARDBP) ENSP00000492196.1:n.832+177A>G
ENST00000649624.1:c.768+241A>G (TARDBP) ENSP00000497327.1:n.768+241A>G
ENST00000240185.7:c.1009A>G (TARDBP) ENSP00000240185.3:p.Met337Val
ENST00000315091.7:c.832+177A>G (TARDBP) ENSP00000313129.3:n.832+177A>G
ENST00000439080.6:c.*590A>G (TARDBP) ENSP00000404666.3:n.*590A>G
ENST00000473869.5:c.841+168A>G (TARDBP) ENSP00000432132.1:n.841+168A>G
ENST00000477447.6:c.140+168A>G (TARDBP)
ENST00000610369.4:c.319+168A>G (TARDBP) ENSP00000482559.1:n.319+168A>G
ENST00000611136.4:c.212+177A>G
ENST00000611963.4:c.472+177A>G (TARDBP) ENSP00000481330.1:n.472+177A>G
ENST00000612542.1:c.107+168A>G
ENST00000614494.1:c.221+241A>G (TARDBP)
ENST00000614757.4:c.841+168A>G ENSP00000481867.1:n.841+168A>G
ENST00000616545.4:c.841+168A>G (TARDBP) ENSP00000484722.1:n.841+168A>G
ENST00000617172.4:c.582+168A>G (TARDBP)
ENST00000619555.4:c.392+168A>G (TARDBP)
ENST00000620505.1:c.111A>G (TARDBP)
ENST00000620632.4:c.392+168A>G (TARDBP)
ENST00000621790.4:c.859+150A>G (TARDBP) ENSP00000482191.1:n.859+150A>G
ENST00000622057.4:c.579+177A>G (TARDBP)
ENST00000629725.2:c.841+168A>G (TARDBP) ENSP00000486989.1:n.841+168A>G
NM_007375.3:c.1009A>G , LRG_659t1:c.1009A>G (TARDBP) NP_031401.1:p.Met337Val
XR_946596.1:n.1131A>G (TARDBP)
XR_946597.1:n.1131A>G (TARDBP)
XM_017000863.2:c.1009A>G (TARDBP) XP_016856352.1:p.Met337Val
XM_017000864.2:c.1009A>G (TARDBP) XP_016856353.1:p.Met337Val
XM_017000865.2:c.1009A>G (TARDBP) XP_016856354.1:p.Met337Val
XM_017000866.2:c.1009A>G (TARDBP) XP_016856355.1:p.Met337Val
XM_017000867.2:c.1009A>G (TARDBP) XP_016856356.1:p.Met337Val
XM_017000868.2:c.1009A>G (TARDBP) XP_016856357.1:p.Met337Val
NM_007375.4:c.1009A>G (TARDBP) MANE Select NP_031401.1:p.Met337Val
Search 100 bp 5'
Search 100 bp 3'