Canonical Allele Identifier: CA1139656666

Gene: RYR2

Linked Data

• ClinVar Variation Id: 940418
• ClinVar RCV Id: RCV003638782
• dbSNP Id: rs1681410223

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640991_237640993del , CM000663.2:g.237640991_237640993del	GRCh38
NC_000001.10:g.237804291_237804293del , CM000663.1:g.237804291_237804293del	GRCh37
NC_000001.9:g.235870914_235870916del	NCBI36
NG_008799.2:g.603590_603592del
NG_008799.3:g.603808_603810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7210_7212del	ENSP00000499659.2:p.Pro2404del
ENST00000659194.3:c.7210_7212del	ENSP00000499653.3:p.Pro2404del
ENST00000660292.2:c.7210_7212del	ENSP00000499787.2:p.Pro2404del
ENST00000366574.7:c.7210_7212del MANE Select	ENSP00000355533.2:p.Pro2404del
ENST00000360064.7:c.7162_7164del	ENSP00000353174.7:p.Pro2388del
ENST00000366574.6:c.7210_7212del	ENSP00000355533.2:p.Pro2404del
NM_001035.2:c.7210_7212del	NP_001026.2:p.Pro2404del
XM_006711802.2:c.7240_7242del	XP_006711865.1:p.Pro2414del
XM_006711803.2:c.7237_7239del	XP_006711866.1:p.Pro2413del
XM_006711804.2:c.7240_7242del	XP_006711867.1:p.Pro2414del
XM_006711805.2:c.7210_7212del	XP_006711868.1:p.Pro2404del
XM_006711806.2:c.7240_7242del	XP_006711869.1:p.Pro2414del
XM_006711807.2:c.7240_7242del	XP_006711870.1:p.Pro2414del
XM_006711808.2:c.7240_7242del	XP_006711871.1:p.Pro2414del
XM_006711809.2:c.7240_7242del	XP_006711872.1:p.Pro2414del
XM_006711810.2:c.7207_7209del	XP_006711873.1:p.Pro2403del
XR_949152.1:n.7521_7523del
XM_006711802.3:c.7240_7242del	XP_006711865.1:p.Pro2414del
XM_006711803.3:c.7237_7239del	XP_006711866.1:p.Pro2413del
XM_006711804.3:c.7240_7242del	XP_006711867.1:p.Pro2414del
XM_006711805.3:c.7210_7212del	XP_006711868.1:p.Pro2404del
XM_006711806.3:c.7240_7242del	XP_006711869.1:p.Pro2414del
XM_006711807.3:c.7240_7242del	XP_006711870.1:p.Pro2414del
XM_006711808.3:c.7240_7242del	XP_006711871.1:p.Pro2414del
XM_006711810.3:c.7207_7209del	XP_006711873.1:p.Pro2403del
XM_017002028.1:c.7219_7221del	XP_016857517.1:p.Pro2407del
XR_002957299.1:n.7554_7556del
XR_949152.2:n.7554_7556del
NM_001035.3:c.7210_7212del MANE Select	NP_001026.2:p.Pro2404del