Canonical Allele Identifier: CA2651205283

Gene: RYR2

Linked Data

• gnomAD v4: 1-237640903-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640912_237640914del , CM000663.2:g.237640912_237640914del	GRCh38
NC_000001.10:g.237804212_237804214del , CM000663.1:g.237804212_237804214del	GRCh37
NC_000001.9:g.235870835_235870837del	NCBI36
NG_008799.2:g.603511_603513del
NG_008799.3:g.603729_603731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7131_7133del	ENSP00000499659.2:p.Glu2378del
ENST00000659194.3:c.7131_7133del	ENSP00000499653.3:p.Glu2378del
ENST00000660292.2:c.7131_7133del	ENSP00000499787.2:p.Glu2378del
ENST00000366574.7:c.7131_7133del MANE Select	ENSP00000355533.2:p.Glu2378del
ENST00000360064.7:c.7083_7085del	ENSP00000353174.7:p.Glu2362del
ENST00000366574.6:c.7131_7133del	ENSP00000355533.2:p.Glu2378del
NM_001035.2:c.7131_7133del	NP_001026.2:p.Glu2378del
XM_006711802.2:c.7161_7163del	XP_006711865.1:p.Glu2388del
XM_006711803.2:c.7158_7160del	XP_006711866.1:p.Glu2387del
XM_006711804.2:c.7161_7163del	XP_006711867.1:p.Glu2388del
XM_006711805.2:c.7131_7133del	XP_006711868.1:p.Glu2378del
XM_006711806.2:c.7161_7163del	XP_006711869.1:p.Glu2388del
XM_006711807.2:c.7161_7163del	XP_006711870.1:p.Glu2388del
XM_006711808.2:c.7161_7163del	XP_006711871.1:p.Glu2388del
XM_006711809.2:c.7161_7163del	XP_006711872.1:p.Glu2388del
XM_006711810.2:c.7128_7130del	XP_006711873.1:p.Glu2377del
XR_949152.1:n.7442_7444del
XM_006711802.3:c.7161_7163del	XP_006711865.1:p.Glu2388del
XM_006711803.3:c.7158_7160del	XP_006711866.1:p.Glu2387del
XM_006711804.3:c.7161_7163del	XP_006711867.1:p.Glu2388del
XM_006711805.3:c.7131_7133del	XP_006711868.1:p.Glu2378del
XM_006711806.3:c.7161_7163del	XP_006711869.1:p.Glu2388del
XM_006711807.3:c.7161_7163del	XP_006711870.1:p.Glu2388del
XM_006711808.3:c.7161_7163del	XP_006711871.1:p.Glu2388del
XM_006711810.3:c.7128_7130del	XP_006711873.1:p.Glu2377del
XM_017002028.1:c.7140_7142del	XP_016857517.1:p.Glu2381del
XR_002957299.1:n.7475_7477del
XR_949152.2:n.7475_7477del
NM_001035.3:c.7131_7133del MANE Select	NP_001026.2:p.Glu2378del