Canonical Allele Identifier: CA340379

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 5234
• ClinVar RCV Id: RCV000005545 ; RCV000516886 ; RCV001851671
• dbSNP Id: rs80356733
• MyVariant Identifiers: chr1:g.11082508G>T (hg19) ; chr1:g.11022451G>T (hg38)
• PubMed: PMID:18372902 ; PMID:18779421 ; PMID:18931000 ; PMID:19236453 ; PMID:19429692 ; PMID:19959528 ; PMID:20031275 ; PMID:20301761 ; PMID:20577002 ; PMID:20806063 ; PMID:21173160 ; PMID:21403029 ; PMID:21752789 ; PMID:21829392 ; PMID:22406069 ; PMID:22563080 ; PMID:23235148 ; PMID:23345247 ; PMID:23457265

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022451G>T , CM000663.2:g.11022451G>T	GRCh38
NC_000001.10:g.11082508G>T , CM000663.1:g.11082508G>T	GRCh37
NC_000001.9:g.11005095G>T	NCBI36
NG_008734.1:g.14830G>T , LRG_659:g.14830G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-258C>A (MASP2)	ENSP00000514787.1:n.1397-258C>A
ENST00000240185.8:c.1042G>T (TARDBP) MANE Select	ENSP00000240185.4:p.Gly348Cys
ENST00000639083.1:c.1042G>T (TARDBP)	ENSP00000491203.1:p.Gly348Cys
ENST00000639599.1:c.832+210G>T (TARDBP)	ENSP00000492196.1:n.832+210G>T
ENST00000649624.1:c.768+274G>T (TARDBP)	ENSP00000497327.1:n.768+274G>T
ENST00000240185.7:c.1042G>T (TARDBP)	ENSP00000240185.3:p.Gly348Cys
ENST00000315091.7:c.832+210G>T (TARDBP)	ENSP00000313129.3:n.832+210G>T
ENST00000439080.6:c.*623G>T (TARDBP)	ENSP00000404666.3:n.*623G>T
ENST00000473869.5:c.841+201G>T (TARDBP)	ENSP00000432132.1:n.841+201G>T
ENST00000477447.6:c.140+201G>T (TARDBP)
ENST00000610369.4:c.319+201G>T (TARDBP)	ENSP00000482559.1:n.319+201G>T
ENST00000611136.4:c.212+210G>T
ENST00000611963.4:c.472+210G>T (TARDBP)	ENSP00000481330.1:n.472+210G>T
ENST00000612542.1:c.107+201G>T
ENST00000614494.1:c.221+274G>T (TARDBP)
ENST00000614757.4:c.841+201G>T	ENSP00000481867.1:n.841+201G>T
ENST00000616545.4:c.841+201G>T (TARDBP)	ENSP00000484722.1:n.841+201G>T
ENST00000617172.4:c.582+201G>T (TARDBP)
ENST00000619555.4:c.392+201G>T (TARDBP)
ENST00000620505.1:c.144G>T (TARDBP)
ENST00000620632.4:c.392+201G>T (TARDBP)
ENST00000621790.4:c.859+183G>T (TARDBP)	ENSP00000482191.1:n.859+183G>T
ENST00000622057.4:c.579+210G>T (TARDBP)
ENST00000629725.2:c.841+201G>T (TARDBP)	ENSP00000486989.1:n.841+201G>T
NM_007375.3:c.1042G>T , LRG_659t1:c.1042G>T (TARDBP)	NP_031401.1:p.Gly348Cys
XR_946596.1:n.1164G>T (TARDBP)
XR_946597.1:n.1164G>T (TARDBP)
XM_017000863.2:c.1042G>T (TARDBP)	XP_016856352.1:p.Gly348Cys
XM_017000864.2:c.1042G>T (TARDBP)	XP_016856353.1:p.Gly348Cys
XM_017000865.2:c.1042G>T (TARDBP)	XP_016856354.1:p.Gly348Cys
XM_017000866.2:c.1042G>T (TARDBP)	XP_016856355.1:p.Gly348Cys
XM_017000867.2:c.1042G>T (TARDBP)	XP_016856356.1:p.Gly348Cys
XM_017000868.2:c.1042G>T (TARDBP)	XP_016856357.1:p.Gly348Cys
NM_007375.4:c.1042G>T (TARDBP) MANE Select	NP_031401.1:p.Gly348Cys