Canonical Allele Identifier: CA586502

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs770985747
• ExAC: 1:11082714 A / AGT
• MyVariant Identifiers: chr1:g.11082714_11082715insGT (hg19) ; chr1:g.11022657_11022658insGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022659_11022660dup , CM000663.2:g.11022659_11022660dup	GRCh38
NC_000001.10:g.11082716_11082717dup , CM000663.1:g.11082716_11082717dup	GRCh37
NC_000001.9:g.11005303_11005304dup	NCBI36
NG_008734.1:g.15038_15039dup , LRG_659:g.15038_15039dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-466_1397-465dup (MASP2)	ENSP00000514787.1:n.1397-466_1397-465dup
ENST00000240185.8:c.*5_*6dup (TARDBP) MANE Select	ENSP00000240185.4:n.*5_*6dup
ENST00000639083.1:c.*5_*6dup (TARDBP)	ENSP00000491203.1:n.*5_*6dup
ENST00000639599.1:c.832+418_832+419dup (TARDBP)	ENSP00000492196.1:n.832+418_832+419dup
ENST00000649624.1:c.768+482_768+483dup (TARDBP)	ENSP00000497327.1:n.768+482_768+483dup
ENST00000240185.7:c.*5_*6dup (TARDBP)	ENSP00000240185.3:n.*5_*6dup
ENST00000315091.7:c.832+418_832+419dup (TARDBP)	ENSP00000313129.3:n.832+418_832+419dup
ENST00000439080.6:c.*831_*832dup (TARDBP)	ENSP00000404666.3:n.*831_*832dup
ENST00000473869.5:c.841+409_841+410dup (TARDBP)	ENSP00000432132.1:n.841+409_841+410dup
ENST00000477447.6:c.140+409_140+410dup (TARDBP)
ENST00000610369.4:c.319+409_319+410dup (TARDBP)	ENSP00000482559.1:n.319+409_319+410dup
ENST00000611136.4:c.212+418_212+419dup
ENST00000611963.4:c.472+418_472+419dup (TARDBP)	ENSP00000481330.1:n.472+418_472+419dup
ENST00000612542.1:c.107+409_107+410dup
ENST00000614494.1:c.221+482_221+483dup (TARDBP)
ENST00000614757.4:c.841+409_841+410dup	ENSP00000481867.1:n.841+409_841+410dup
ENST00000616545.4:c.841+409_841+410dup (TARDBP)	ENSP00000484722.1:n.841+409_841+410dup
ENST00000617172.4:c.582+409_582+410dup (TARDBP)
ENST00000619555.4:c.392+409_392+410dup (TARDBP)
ENST00000620505.1:c.352_353dup (TARDBP)
ENST00000620632.4:c.392+409_392+410dup (TARDBP)
ENST00000621573.1:c.112_113dup (TARDBP)
ENST00000621790.4:c.859+391_859+392dup (TARDBP)	ENSP00000482191.1:n.859+391_859+392dup
ENST00000622057.4:c.579+418_579+419dup (TARDBP)
ENST00000629725.2:c.841+409_841+410dup (TARDBP)	ENSP00000486989.1:n.841+409_841+410dup
NM_007375.3:c.*5_*6dup , LRG_659t1:c.*5_*6dup (TARDBP)	NP_031401.1:n.*5_*6dup
XR_946596.1:n.1372_1373dup (TARDBP)
XR_946597.1:n.1372_1373dup (TARDBP)
XM_017000863.2:c.*5_*6dup (TARDBP)	XP_016856352.1:n.*5_*6dup
XM_017000864.2:c.*5_*6dup (TARDBP)	XP_016856353.1:n.*5_*6dup
XM_017000865.2:c.*5_*6dup (TARDBP)	XP_016856354.1:n.*5_*6dup
XM_017000866.2:c.*5_*6dup (TARDBP)	XP_016856355.1:n.*5_*6dup
XM_017000867.2:c.*5_*6dup (TARDBP)	XP_016856356.1:n.*5_*6dup
XM_017000868.2:c.*5_*6dup (TARDBP)	XP_016856357.1:n.*5_*6dup
NM_007375.4:c.*5_*6dup (TARDBP) MANE Select	NP_031401.1:n.*5_*6dup