Canonical Allele Identifier: CA658656997

Gene: RYR2

Linked Data

• ClinVar Variation Id: 450836
• ClinVar RCV Id: RCV000523571
• dbSNP Id: rs1553263732

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237639026_237639028delinsAAA , CM000663.2:g.237639026_237639028delinsAAA	GRCh38
NC_000001.10:g.237802326_237802328delinsAAA , CM000663.1:g.237802326_237802328delinsAAA	GRCh37
NC_000001.9:g.235868949_235868951delinsAAA	NCBI36
NG_008799.2:g.601625_601627delinsAAA
NG_008799.3:g.601843_601845delinsAAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.6940_6942delinsAAA	ENSP00000499659.2:p.Glu2314Lys
ENST00000659194.3:c.6940_6942delinsAAA	ENSP00000499653.3:p.Glu2314Lys
ENST00000660292.2:c.6940_6942delinsAAA	ENSP00000499787.2:p.Glu2314Lys
ENST00000366574.7:c.6940_6942delinsAAA MANE Select	ENSP00000355533.2:p.Glu2314Lys
ENST00000360064.7:c.6892_6894delinsAAA	ENSP00000353174.7:p.Glu2298Lys
ENST00000366574.6:c.6940_6942delinsAAA	ENSP00000355533.2:p.Glu2314Lys
NM_001035.2:c.6940_6942delinsAAA	NP_001026.2:p.Glu2314Lys
XM_006711802.2:c.6970_6972delinsAAA	XP_006711865.1:p.Glu2324Lys
XM_006711803.2:c.6967_6969delinsAAA	XP_006711866.1:p.Glu2323Lys
XM_006711804.2:c.6970_6972delinsAAA	XP_006711867.1:p.Glu2324Lys
XM_006711805.2:c.6940_6942delinsAAA	XP_006711868.1:p.Glu2314Lys
XM_006711806.2:c.6970_6972delinsAAA	XP_006711869.1:p.Glu2324Lys
XM_006711807.2:c.6970_6972delinsAAA	XP_006711870.1:p.Glu2324Lys
XM_006711808.2:c.6970_6972delinsAAA	XP_006711871.1:p.Glu2324Lys
XM_006711809.2:c.6970_6972delinsAAA	XP_006711872.1:p.Glu2324Lys
XM_006711810.2:c.6937_6939delinsAAA	XP_006711873.1:p.Glu2313Lys
XR_949152.1:n.7251_7253delinsAAA
XM_006711802.3:c.6970_6972delinsAAA	XP_006711865.1:p.Glu2324Lys
XM_006711803.3:c.6967_6969delinsAAA	XP_006711866.1:p.Glu2323Lys
XM_006711804.3:c.6970_6972delinsAAA	XP_006711867.1:p.Glu2324Lys
XM_006711805.3:c.6940_6942delinsAAA	XP_006711868.1:p.Glu2314Lys
XM_006711806.3:c.6970_6972delinsAAA	XP_006711869.1:p.Glu2324Lys
XM_006711807.3:c.6970_6972delinsAAA	XP_006711870.1:p.Glu2324Lys
XM_006711808.3:c.6970_6972delinsAAA	XP_006711871.1:p.Glu2324Lys
XM_006711810.3:c.6937_6939delinsAAA	XP_006711873.1:p.Glu2313Lys
XM_017002028.1:c.6949_6951delinsAAA	XP_016857517.1:p.Glu2317Lys
XR_002957299.1:n.7284_7286delinsAAA
XR_949152.2:n.7284_7286delinsAAA
NM_001035.3:c.6940_6942delinsAAA MANE Select	NP_001026.2:p.Glu2314Lys