Canonical Allele Identifier: CA338364203

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11022172-G-A
• MyVariant Identifiers: chr1:g.11082229G>A (hg19) ; chr1:g.11022172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022172G>A , CM000663.2:g.11022172G>A	GRCh38
NC_000001.10:g.11082229G>A , CM000663.1:g.11082229G>A	GRCh37
NC_000001.9:g.11004816G>A	NCBI36
NG_008734.1:g.14551G>A , LRG_659:g.14551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1418C>T (MASP2)	ENSP00000514787.1:n.1418C>T
ENST00000240185.8:c.763G>A (TARDBP) MANE Select	ENSP00000240185.4:p.Val255Ile
ENST00000639083.1:c.763G>A (TARDBP)	ENSP00000491203.1:p.Val255Ile
ENST00000639599.1:c.763G>A (TARDBP)	ENSP00000492196.1:p.Val255Ile
ENST00000649624.1:c.763G>A (TARDBP)	ENSP00000497327.1:p.Val255Ile
ENST00000240185.7:c.763G>A (TARDBP)	ENSP00000240185.3:p.Val255Ile
ENST00000315091.7:c.763G>A (TARDBP)	ENSP00000313129.3:p.Val255Ile
ENST00000439080.6:c.*344G>A (TARDBP)	ENSP00000404666.3:n.*344G>A
ENST00000472476.5:c.*652G>A (TARDBP)	ENSP00000465080.1:n.*652G>A
ENST00000473869.5:c.763G>A (TARDBP)	ENSP00000432132.1:p.Val255Ile
ENST00000477447.6:c.62G>A (TARDBP)
ENST00000610369.4:c.241G>A (TARDBP)	ENSP00000482559.1:p.Val81Ile
ENST00000611136.4:c.143G>A
ENST00000611963.4:c.403G>A (TARDBP)	ENSP00000481330.1:p.Val135Ile
ENST00000612542.1:c.29G>A
ENST00000614494.1:c.216G>A (TARDBP)
ENST00000614757.4:c.763G>A	ENSP00000481867.1:p.Val255Ile
ENST00000616545.4:c.763G>A (TARDBP)	ENSP00000484722.1:p.Val255Ile
ENST00000617172.4:c.504G>A (TARDBP)
ENST00000619555.4:c.314G>A (TARDBP)
ENST00000620632.4:c.314G>A (TARDBP)
ENST00000621715.4:c.592G>A (TARDBP)	ENSP00000480690.1:p.Val198Ile
ENST00000621790.4:c.763G>A (TARDBP)	ENSP00000482191.1:p.Val255Ile
ENST00000622057.4:c.510G>A (TARDBP)
ENST00000629725.2:c.763G>A (TARDBP)	ENSP00000486989.1:p.Val255Ile
NM_007375.3:c.763G>A , LRG_659t1:c.763G>A (TARDBP)	NP_031401.1:p.Val255Ile
XR_946596.1:n.885G>A (TARDBP)
XR_946597.1:n.885G>A (TARDBP)
XM_017000863.2:c.763G>A (TARDBP)	XP_016856352.1:p.Val255Ile
XM_017000864.2:c.763G>A (TARDBP)	XP_016856353.1:p.Val255Ile
XM_017000865.2:c.763G>A (TARDBP)	XP_016856354.1:p.Val255Ile
XM_017000866.2:c.763G>A (TARDBP)	XP_016856355.1:p.Val255Ile
XM_017000867.2:c.763G>A (TARDBP)	XP_016856356.1:p.Val255Ile
XM_017000868.2:c.763G>A (TARDBP)	XP_016856357.1:p.Val255Ile
NM_007375.4:c.763G>A (TARDBP) MANE Select	NP_031401.1:p.Val255Ile