Canonical Allele Identifier: CA1013748110

Gene: RYR2

Linked Data

• dbSNP Id: rs1695357707
• gnomAD v3: 1-237784147-CGA-C
• gnomAD v4: 1-237784147-CGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784151_237784152del , CM000663.2:g.237784151_237784152del	GRCh38
NC_000001.10:g.237947451_237947452del , CM000663.1:g.237947451_237947452del	GRCh37
NC_000001.9:g.236014074_236014075del	NCBI36
NG_008799.2:g.746750_746751del
NG_008799.3:g.746968_746969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3531_*3532del	ENSP00000499659.2:n.*3531_*3532del
ENST00000659194.3:c.12427_12428del	ENSP00000499653.3:p.Arg4143GlyfsTer4
ENST00000660292.2:c.12460_12461del	ENSP00000499787.2:p.Arg4154GlyfsTer4
ENST00000659194.2:c.4616_4617del
ENST00000366574.7:c.12439_12440del MANE Select	ENSP00000355533.2:p.Arg4147GlyfsTer4
ENST00000659194.1:c.4616_4617del
ENST00000660292.1:c.2492_2493del
ENST00000360064.7:c.12391_12392del	ENSP00000353174.7:p.Arg4131GlyfsTer4
ENST00000366574.6:c.12439_12440del	ENSP00000355533.2:p.Arg4147GlyfsTer4
ENST00000609119.1:n.3634_3635del
NM_001035.2:c.12439_12440del	NP_001026.2:p.Arg4147GlyfsTer4
XM_006711802.2:c.12493_12494del	XP_006711865.1:p.Arg4165GlyfsTer4
XM_006711803.2:c.12490_12491del	XP_006711866.1:p.Arg4164GlyfsTer4
XM_006711804.2:c.12469_12470del	XP_006711867.1:p.Arg4157GlyfsTer4
XM_006711805.2:c.12463_12464del	XP_006711868.1:p.Arg4155GlyfsTer4
XM_006711806.2:c.12457_12458del	XP_006711869.1:p.Arg4153GlyfsTer4
XM_006711807.2:c.12433_12434del	XP_006711870.1:p.Arg4145GlyfsTer4
XM_006711808.2:c.12256_12257del	XP_006711871.1:p.Arg4086GlyfsTer4
XM_006711810.2:c.12400_12401del	XP_006711873.1:p.Arg4134GlyfsTer4
XM_006711802.3:c.12493_12494del	XP_006711865.1:p.Arg4165GlyfsTer4
XM_006711803.3:c.12490_12491del	XP_006711866.1:p.Arg4164GlyfsTer4
XM_006711804.3:c.12469_12470del	XP_006711867.1:p.Arg4157GlyfsTer4
XM_006711805.3:c.12463_12464del	XP_006711868.1:p.Arg4155GlyfsTer4
XM_006711806.3:c.12457_12458del	XP_006711869.1:p.Arg4153GlyfsTer4
XM_006711807.3:c.12433_12434del	XP_006711870.1:p.Arg4145GlyfsTer4
XM_006711808.3:c.12256_12257del	XP_006711871.1:p.Arg4086GlyfsTer4
XM_006711810.3:c.12400_12401del	XP_006711873.1:p.Arg4134GlyfsTer4
XM_017002028.1:c.12472_12473del	XP_016857517.1:p.Arg4158GlyfsTer4
NM_001035.3:c.12439_12440del MANE Select	NP_001026.2:p.Arg4147GlyfsTer4