Canonical Allele Identifier: CA2643224241

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11022067-TTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022068_11022070del , CM000663.2:g.11022068_11022070del	GRCh38
NC_000001.10:g.11082125_11082127del , CM000663.1:g.11082125_11082127del	GRCh37
NC_000001.9:g.11004712_11004714del	NCBI36
NG_008734.1:g.14447_14449del , LRG_659:g.14447_14449del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1520_1522del (MASP2)	ENSP00000514787.1:n.1520_1522del
ENST00000240185.8:c.715-56_715-54del (TARDBP) MANE Select	ENSP00000240185.4:n.715-56_715-54del
ENST00000639083.1:c.715-56_715-54del (TARDBP)	ENSP00000491203.1:n.715-56_715-54del
ENST00000639599.1:c.715-56_715-54del (TARDBP)	ENSP00000492196.1:n.715-56_715-54del
ENST00000649624.1:c.715-56_715-54del (TARDBP)	ENSP00000497327.1:n.715-56_715-54del
ENST00000240185.7:c.715-56_715-54del (TARDBP)	ENSP00000240185.3:n.715-56_715-54del
ENST00000315091.7:c.715-56_715-54del (TARDBP)	ENSP00000313129.3:n.715-56_715-54del
ENST00000439080.6:c.*296-56_*296-54del (TARDBP)	ENSP00000404666.3:n.*296-56_*296-54del
ENST00000472476.5:c.*604-56_*604-54del (TARDBP)	ENSP00000465080.1:n.*604-56_*604-54del
ENST00000473869.5:c.715-56_715-54del (TARDBP)	ENSP00000432132.1:n.715-56_715-54del
ENST00000477447.6:c.14-56_14-54del (TARDBP)
ENST00000610369.4:c.193-56_193-54del (TARDBP)	ENSP00000482559.1:n.193-56_193-54del
ENST00000611136.4:c.95-56_95-54del
ENST00000611963.4:c.355-56_355-54del (TARDBP)	ENSP00000481330.1:n.355-56_355-54del
ENST00000614494.1:c.168-56_168-54del (TARDBP)
ENST00000614757.4:c.715-56_715-54del	ENSP00000481867.1:n.715-56_715-54del
ENST00000616545.4:c.715-56_715-54del (TARDBP)	ENSP00000484722.1:n.715-56_715-54del
ENST00000617172.4:c.456-56_456-54del (TARDBP)
ENST00000619555.4:c.266-56_266-54del (TARDBP)
ENST00000620632.4:c.266-56_266-54del (TARDBP)
ENST00000621715.4:c.544-56_544-54del (TARDBP)	ENSP00000480690.1:n.544-56_544-54del
ENST00000621790.4:c.715-56_715-54del (TARDBP)	ENSP00000482191.1:n.715-56_715-54del
ENST00000622057.4:c.462-56_462-54del (TARDBP)
ENST00000629725.2:c.715-56_715-54del (TARDBP)	ENSP00000486989.1:n.715-56_715-54del
NM_007375.3:c.715-56_715-54del , LRG_659t1:c.715-56_715-54del (TARDBP)	NP_031401.1:n.715-56_715-54del
XR_946596.1:n.837-56_837-54del (TARDBP)
XR_946597.1:n.837-56_837-54del (TARDBP)
XM_017000863.2:c.715-56_715-54del (TARDBP)	XP_016856352.1:n.715-56_715-54del
XM_017000864.2:c.715-56_715-54del (TARDBP)	XP_016856353.1:n.715-56_715-54del
XM_017000865.2:c.715-56_715-54del (TARDBP)	XP_016856354.1:n.715-56_715-54del
XM_017000866.2:c.715-56_715-54del (TARDBP)	XP_016856355.1:n.715-56_715-54del
XM_017000867.2:c.715-56_715-54del (TARDBP)	XP_016856356.1:n.715-56_715-54del
XM_017000868.2:c.715-56_715-54del (TARDBP)	XP_016856357.1:n.715-56_715-54del
NM_007375.4:c.715-56_715-54del (TARDBP) MANE Select	NP_031401.1:n.715-56_715-54del