Canonical Allele Identifier: CA645512023

Gene: MASP2 TARDBP

Linked Data

• COSMIC: COSM4950431

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022608_11022609insGCG , CM000663.2:g.11022608_11022609insGCG	GRCh38
NC_000001.10:g.11082665_11082666insGCG , CM000663.1:g.11082665_11082666insGCG	GRCh37
NC_000001.9:g.11005252_11005253insGCG	NCBI36
NG_008734.1:g.14987_14988insGCG , LRG_659:g.14987_14988insGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-415_1397-414insGCC (MASP2)	ENSP00000514787.1:n.1397-415_1397-414insGCC
ENST00000240185.8:c.1199_1200insGCG (TARDBP) MANE Select	ENSP00000240185.4:p.Gly400_Phe401insArg
ENST00000639083.1:c.1199_1200insGCG (TARDBP)	ENSP00000491203.1:p.Gly400_Phe401insArg
ENST00000639599.1:c.832+367_832+368insGCG (TARDBP)	ENSP00000492196.1:n.832+367_832+368insGCG
ENST00000649624.1:c.768+431_768+432insGCG (TARDBP)	ENSP00000497327.1:n.768+431_768+432insGCG
ENST00000240185.7:c.1199_1200insGCG (TARDBP)	ENSP00000240185.3:p.Gly400_Phe401insArg
ENST00000315091.7:c.832+367_832+368insGCG (TARDBP)	ENSP00000313129.3:n.832+367_832+368insGCG
ENST00000439080.6:c.*780_*781insGCG (TARDBP)	ENSP00000404666.3:n.*780_*781insGCG
ENST00000473869.5:c.841+358_841+359insGCG (TARDBP)	ENSP00000432132.1:n.841+358_841+359insGCG
ENST00000477447.6:c.140+358_140+359insGCG (TARDBP)
ENST00000610369.4:c.319+358_319+359insGCG (TARDBP)	ENSP00000482559.1:n.319+358_319+359insGCG
ENST00000611136.4:c.212+367_212+368insGCG
ENST00000611963.4:c.472+367_472+368insGCG (TARDBP)	ENSP00000481330.1:n.472+367_472+368insGCG
ENST00000612542.1:c.107+358_107+359insGCG
ENST00000614494.1:c.221+431_221+432insGCG (TARDBP)
ENST00000614757.4:c.841+358_841+359insGCG	ENSP00000481867.1:n.841+358_841+359insGCG
ENST00000616545.4:c.841+358_841+359insGCG (TARDBP)	ENSP00000484722.1:n.841+358_841+359insGCG
ENST00000617172.4:c.582+358_582+359insGCG (TARDBP)
ENST00000619555.4:c.392+358_392+359insGCG (TARDBP)
ENST00000620505.1:c.301_302insGCG (TARDBP)
ENST00000620632.4:c.392+358_392+359insGCG (TARDBP)
ENST00000621573.1:c.61_62insGCG (TARDBP)
ENST00000621790.4:c.859+340_859+341insGCG (TARDBP)	ENSP00000482191.1:n.859+340_859+341insGCG
ENST00000622057.4:c.579+367_579+368insGCG (TARDBP)
ENST00000629725.2:c.841+358_841+359insGCG (TARDBP)	ENSP00000486989.1:n.841+358_841+359insGCG
NM_007375.3:c.1199_1200insGCG , LRG_659t1:c.1199_1200insGCG (TARDBP)	NP_031401.1:p.Gly400_Phe401insArg
XR_946596.1:n.1321_1322insGCG (TARDBP)
XR_946597.1:n.1321_1322insGCG (TARDBP)
XM_017000863.2:c.1199_1200insGCG (TARDBP)	XP_016856352.1:p.Gly400_Phe401insArg
XM_017000864.2:c.1199_1200insGCG (TARDBP)	XP_016856353.1:p.Gly400_Phe401insArg
XM_017000865.2:c.1199_1200insGCG (TARDBP)	XP_016856354.1:p.Gly400_Phe401insArg
XM_017000866.2:c.1199_1200insGCG (TARDBP)	XP_016856355.1:p.Gly400_Phe401insArg
XM_017000867.2:c.1199_1200insGCG (TARDBP)	XP_016856356.1:p.Gly400_Phe401insArg
XM_017000868.2:c.1199_1200insGCG (TARDBP)	XP_016856357.1:p.Gly400_Phe401insArg
NM_007375.4:c.1199_1200insGCG (TARDBP) MANE Select	NP_031401.1:p.Gly400_Phe401insArg