Canonical Allele Identifier: CA2742458402

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022660G>T , CM000663.2:g.11022660G>T	GRCh38
NC_000001.10:g.11082717G>T , CM000663.1:g.11082717G>T	GRCh37
NC_000001.9:g.11005304G>T	NCBI36
NG_008734.1:g.15039G>T , LRG_659:g.15039G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-467C>A (MASP2)	ENSP00000514787.1:n.1397-467C>A
ENST00000240185.8:c.*6G>T (TARDBP) MANE Select	ENSP00000240185.4:n.*6G>T
ENST00000639083.1:c.*6G>T (TARDBP)	ENSP00000491203.1:n.*6G>T
ENST00000639599.1:c.832+419G>T (TARDBP)	ENSP00000492196.1:n.832+419G>T
ENST00000649624.1:c.768+483G>T (TARDBP)	ENSP00000497327.1:n.768+483G>T
ENST00000240185.7:c.*6G>T (TARDBP)	ENSP00000240185.3:n.*6G>T
ENST00000315091.7:c.832+419G>T (TARDBP)	ENSP00000313129.3:n.832+419G>T
ENST00000439080.6:c.*832G>T (TARDBP)	ENSP00000404666.3:n.*832G>T
ENST00000473869.5:c.841+410G>T (TARDBP)	ENSP00000432132.1:n.841+410G>T
ENST00000477447.6:c.140+410G>T (TARDBP)
ENST00000610369.4:c.319+410G>T (TARDBP)	ENSP00000482559.1:n.319+410G>T
ENST00000611136.4:c.212+419G>T
ENST00000611963.4:c.472+419G>T (TARDBP)	ENSP00000481330.1:n.472+419G>T
ENST00000612542.1:c.107+410G>T
ENST00000614494.1:c.221+483G>T (TARDBP)
ENST00000614757.4:c.841+410G>T	ENSP00000481867.1:n.841+410G>T
ENST00000616545.4:c.841+410G>T (TARDBP)	ENSP00000484722.1:n.841+410G>T
ENST00000617172.4:c.582+410G>T (TARDBP)
ENST00000619555.4:c.392+410G>T (TARDBP)
ENST00000620505.1:c.353G>T (TARDBP)
ENST00000620632.4:c.392+410G>T (TARDBP)
ENST00000621573.1:c.113G>T (TARDBP)
ENST00000621790.4:c.859+392G>T (TARDBP)	ENSP00000482191.1:n.859+392G>T
ENST00000622057.4:c.579+419G>T (TARDBP)
ENST00000629725.2:c.841+410G>T (TARDBP)	ENSP00000486989.1:n.841+410G>T
NM_007375.3:c.*6G>T , LRG_659t1:c.*6G>T (TARDBP)	NP_031401.1:n.*6G>T
XR_946596.1:n.1373G>T (TARDBP)
XR_946597.1:n.1373G>T (TARDBP)
XM_017000863.2:c.*6G>T (TARDBP)	XP_016856352.1:n.*6G>T
XM_017000864.2:c.*6G>T (TARDBP)	XP_016856353.1:n.*6G>T
XM_017000865.2:c.*6G>T (TARDBP)	XP_016856354.1:n.*6G>T
XM_017000866.2:c.*6G>T (TARDBP)	XP_016856355.1:n.*6G>T
XM_017000867.2:c.*6G>T (TARDBP)	XP_016856356.1:n.*6G>T
XM_017000868.2:c.*6G>T (TARDBP)	XP_016856357.1:n.*6G>T
NM_007375.4:c.*6G>T (TARDBP) MANE Select	NP_031401.1:n.*6G>T