Canonical Allele Identifier: CA2580060485

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 2025794
• ClinVar RCV Id: RCV002880627

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022576_11022581dup , CM000663.2:g.11022576_11022581dup	GRCh38
NC_000001.10:g.11082633_11082638dup , CM000663.1:g.11082633_11082638dup	GRCh37
NC_000001.9:g.11005220_11005225dup	NCBI36
NG_008734.1:g.14955_14960dup , LRG_659:g.14955_14960dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-387_1397-382dup (MASP2)	ENSP00000514787.1:n.1397-387_1397-382dup
ENST00000240185.8:c.1167_1172dup (TARDBP) MANE Select	ENSP00000240185.4:p.Ala391_Gly392insAsnAla
ENST00000639083.1:c.1167_1172dup (TARDBP)	ENSP00000491203.1:p.Ala391_Gly392insAsnAla
ENST00000639599.1:c.832+335_832+340dup (TARDBP)	ENSP00000492196.1:n.832+335_832+340dup
ENST00000649624.1:c.768+399_768+404dup (TARDBP)	ENSP00000497327.1:n.768+399_768+404dup
ENST00000240185.7:c.1167_1172dup (TARDBP)	ENSP00000240185.3:p.Ala391_Gly392insAsnAla
ENST00000315091.7:c.832+335_832+340dup (TARDBP)	ENSP00000313129.3:n.832+335_832+340dup
ENST00000439080.6:c.*748_*753dup (TARDBP)	ENSP00000404666.3:n.*748_*753dup
ENST00000473869.5:c.841+326_841+331dup (TARDBP)	ENSP00000432132.1:n.841+326_841+331dup
ENST00000477447.6:c.140+326_140+331dup (TARDBP)
ENST00000610369.4:c.319+326_319+331dup (TARDBP)	ENSP00000482559.1:n.319+326_319+331dup
ENST00000611136.4:c.212+335_212+340dup
ENST00000611963.4:c.472+335_472+340dup (TARDBP)	ENSP00000481330.1:n.472+335_472+340dup
ENST00000612542.1:c.107+326_107+331dup
ENST00000614494.1:c.221+399_221+404dup (TARDBP)
ENST00000614757.4:c.841+326_841+331dup	ENSP00000481867.1:n.841+326_841+331dup
ENST00000616545.4:c.841+326_841+331dup (TARDBP)	ENSP00000484722.1:n.841+326_841+331dup
ENST00000617172.4:c.582+326_582+331dup (TARDBP)
ENST00000619555.4:c.392+326_392+331dup (TARDBP)
ENST00000620505.1:c.269_274dup (TARDBP)
ENST00000620632.4:c.392+326_392+331dup (TARDBP)
ENST00000621573.1:c.29_34dup (TARDBP)
ENST00000621790.4:c.859+308_859+313dup (TARDBP)	ENSP00000482191.1:n.859+308_859+313dup
ENST00000622057.4:c.579+335_579+340dup (TARDBP)
ENST00000629725.2:c.841+326_841+331dup (TARDBP)	ENSP00000486989.1:n.841+326_841+331dup
NM_007375.3:c.1167_1172dup , LRG_659t1:c.1167_1172dup (TARDBP)	NP_031401.1:p.Ala391_Gly392insAsnAla
XR_946596.1:n.1289_1294dup (TARDBP)
XR_946597.1:n.1289_1294dup (TARDBP)
XM_017000863.2:c.1167_1172dup (TARDBP)	XP_016856352.1:p.Ala391_Gly392insAsnAla
XM_017000864.2:c.1167_1172dup (TARDBP)	XP_016856353.1:p.Ala391_Gly392insAsnAla
XM_017000865.2:c.1167_1172dup (TARDBP)	XP_016856354.1:p.Ala391_Gly392insAsnAla
XM_017000866.2:c.1167_1172dup (TARDBP)	XP_016856355.1:p.Ala391_Gly392insAsnAla
XM_017000867.2:c.1167_1172dup (TARDBP)	XP_016856356.1:p.Ala391_Gly392insAsnAla
XM_017000868.2:c.1167_1172dup (TARDBP)	XP_016856357.1:p.Ala391_Gly392insAsnAla
NM_007375.4:c.1167_1172dup (TARDBP) MANE Select	NP_031401.1:p.Ala391_Gly392insAsnAla