Canonical Allele Identifier: CA340375

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 5232
• ClinVar RCV Id: RCV000005543 ; RCV000713825 ; RCV001851670
• dbSNP Id: rs4884357
• gnomAD v2: 1-11082358-G-A
• MyVariant Identifiers: chr1:g.11082358G>A (hg19) ; chr1:g.11022301G>A (hg38)
• PubMed: PMID:18396105 ; PMID:20301761

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022301G>A , CM000663.2:g.11022301G>A	GRCh38
NC_000001.10:g.11082358G>A , CM000663.1:g.11082358G>A	GRCh37
NC_000001.9:g.11004945G>A	NCBI36
NG_008734.1:g.14680G>A , LRG_659:g.14680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-108C>T (MASP2)	ENSP00000514787.1:n.1397-108C>T
ENST00000240185.8:c.892G>A (TARDBP) MANE Select	ENSP00000240185.4:p.Gly298Ser
ENST00000639083.1:c.892G>A (TARDBP)	ENSP00000491203.1:p.Gly298Ser
ENST00000639599.1:c.832+60G>A (TARDBP)	ENSP00000492196.1:n.832+60G>A
ENST00000649624.1:c.768+124G>A (TARDBP)	ENSP00000497327.1:n.768+124G>A
ENST00000240185.7:c.892G>A (TARDBP)	ENSP00000240185.3:p.Gly298Ser
ENST00000315091.7:c.832+60G>A (TARDBP)	ENSP00000313129.3:n.832+60G>A
ENST00000439080.6:c.*473G>A (TARDBP)	ENSP00000404666.3:n.*473G>A
ENST00000473869.5:c.841+51G>A (TARDBP)	ENSP00000432132.1:n.841+51G>A
ENST00000477447.6:c.140+51G>A (TARDBP)
ENST00000610369.4:c.319+51G>A (TARDBP)	ENSP00000482559.1:n.319+51G>A
ENST00000611136.4:c.212+60G>A
ENST00000611963.4:c.472+60G>A (TARDBP)	ENSP00000481330.1:n.472+60G>A
ENST00000612542.1:c.107+51G>A
ENST00000614494.1:c.221+124G>A (TARDBP)
ENST00000614757.4:c.841+51G>A	ENSP00000481867.1:n.841+51G>A
ENST00000616545.4:c.841+51G>A (TARDBP)	ENSP00000484722.1:n.841+51G>A
ENST00000617172.4:c.582+51G>A (TARDBP)
ENST00000619555.4:c.392+51G>A (TARDBP)
ENST00000620632.4:c.392+51G>A (TARDBP)
ENST00000621715.4:c.721G>A (TARDBP)	ENSP00000480690.1:p.Gly241Ser
ENST00000621790.4:c.859+33G>A (TARDBP)	ENSP00000482191.1:n.859+33G>A
ENST00000622057.4:c.579+60G>A (TARDBP)
ENST00000629725.2:c.841+51G>A (TARDBP)	ENSP00000486989.1:n.841+51G>A
NM_007375.3:c.892G>A , LRG_659t1:c.892G>A (TARDBP)	NP_031401.1:p.Gly298Ser
XR_946596.1:n.1014G>A (TARDBP)
XR_946597.1:n.1014G>A (TARDBP)
XM_017000863.2:c.892G>A (TARDBP)	XP_016856352.1:p.Gly298Ser
XM_017000864.2:c.892G>A (TARDBP)	XP_016856353.1:p.Gly298Ser
XM_017000865.2:c.892G>A (TARDBP)	XP_016856354.1:p.Gly298Ser
XM_017000866.2:c.892G>A (TARDBP)	XP_016856355.1:p.Gly298Ser
XM_017000867.2:c.892G>A (TARDBP)	XP_016856356.1:p.Gly298Ser
XM_017000868.2:c.892G>A (TARDBP)	XP_016856357.1:p.Gly298Ser
NM_007375.4:c.892G>A (TARDBP) MANE Select	NP_031401.1:p.Gly298Ser