Canonical Allele Identifier: CA347247

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 190399
• ClinVar RCV Id: RCV000192195 ; RCV000713823 ; RCV000795453
• dbSNP Id: rs797044594
• MyVariant Identifiers: chr1:g.11082616G>C (hg19) ; chr1:g.11022559G>C (hg38)
• PubMed: PMID:20301761

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022559G>C , CM000663.2:g.11022559G>C	GRCh38
NC_000001.10:g.11082616G>C , CM000663.1:g.11082616G>C	GRCh37
NC_000001.9:g.11005203G>C	NCBI36
NG_008734.1:g.14938G>C , LRG_659:g.14938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-366C>G (MASP2)	ENSP00000514787.1:n.1397-366C>G
ENST00000240185.8:c.1150G>C (TARDBP) MANE Select	ENSP00000240185.4:p.Gly384Arg
ENST00000639083.1:c.1150G>C (TARDBP)	ENSP00000491203.1:p.Gly384Arg
ENST00000639599.1:c.832+318G>C (TARDBP)	ENSP00000492196.1:n.832+318G>C
ENST00000649624.1:c.768+382G>C (TARDBP)	ENSP00000497327.1:n.768+382G>C
ENST00000240185.7:c.1150G>C (TARDBP)	ENSP00000240185.3:p.Gly384Arg
ENST00000315091.7:c.832+318G>C (TARDBP)	ENSP00000313129.3:n.832+318G>C
ENST00000439080.6:c.*731G>C (TARDBP)	ENSP00000404666.3:n.*731G>C
ENST00000473869.5:c.841+309G>C (TARDBP)	ENSP00000432132.1:n.841+309G>C
ENST00000477447.6:c.140+309G>C (TARDBP)
ENST00000610369.4:c.319+309G>C (TARDBP)	ENSP00000482559.1:n.319+309G>C
ENST00000611136.4:c.212+318G>C
ENST00000611963.4:c.472+318G>C (TARDBP)	ENSP00000481330.1:n.472+318G>C
ENST00000612542.1:c.107+309G>C
ENST00000614494.1:c.221+382G>C (TARDBP)
ENST00000614757.4:c.841+309G>C	ENSP00000481867.1:n.841+309G>C
ENST00000616545.4:c.841+309G>C (TARDBP)	ENSP00000484722.1:n.841+309G>C
ENST00000617172.4:c.582+309G>C (TARDBP)
ENST00000619555.4:c.392+309G>C (TARDBP)
ENST00000620505.1:c.252G>C (TARDBP)
ENST00000620632.4:c.392+309G>C (TARDBP)
ENST00000621573.1:c.12G>C (TARDBP)
ENST00000621790.4:c.859+291G>C (TARDBP)	ENSP00000482191.1:n.859+291G>C
ENST00000622057.4:c.579+318G>C (TARDBP)
ENST00000629725.2:c.841+309G>C (TARDBP)	ENSP00000486989.1:n.841+309G>C
NM_007375.3:c.1150G>C , LRG_659t1:c.1150G>C (TARDBP)	NP_031401.1:p.Gly384Arg
XR_946596.1:n.1272G>C (TARDBP)
XR_946597.1:n.1272G>C (TARDBP)
XM_017000863.2:c.1150G>C (TARDBP)	XP_016856352.1:p.Gly384Arg
XM_017000864.2:c.1150G>C (TARDBP)	XP_016856353.1:p.Gly384Arg
XM_017000865.2:c.1150G>C (TARDBP)	XP_016856354.1:p.Gly384Arg
XM_017000866.2:c.1150G>C (TARDBP)	XP_016856355.1:p.Gly384Arg
XM_017000867.2:c.1150G>C (TARDBP)	XP_016856356.1:p.Gly384Arg
XM_017000868.2:c.1150G>C (TARDBP)	XP_016856357.1:p.Gly384Arg
NM_007375.4:c.1150G>C (TARDBP) MANE Select	NP_031401.1:p.Gly384Arg