Canonical Allele Identifier: CA345413480

Gene: RYR2

Linked Data

• ClinVar Variation Id: 979204
• ClinVar RCV Id: RCV001258371
• dbSNP Id: rs1695363148
• COSMIC: COSM4524031 ; COSM4524032
• MyVariant Identifiers: chr1:g.237947511G>A (hg19) ; chr1:g.237784211G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784211G>A , CM000663.2:g.237784211G>A	GRCh38
NC_000001.10:g.237947511G>A , CM000663.1:g.237947511G>A	GRCh37
NC_000001.9:g.236014134G>A	NCBI36
NG_008799.2:g.746810G>A
NG_008799.3:g.747028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3591G>A	ENSP00000499659.2:n.*3591G>A
ENST00000659194.3:c.12487G>A	ENSP00000499653.3:p.Glu4163Lys
ENST00000660292.2:c.12520G>A	ENSP00000499787.2:p.Glu4174Lys
ENST00000659194.2:c.4676G>A
ENST00000366574.7:c.12499G>A MANE Select	ENSP00000355533.2:p.Glu4167Lys
ENST00000659194.1:c.4676G>A
ENST00000660292.1:c.2552G>A
ENST00000360064.7:c.12451G>A	ENSP00000353174.7:p.Glu4151Lys
ENST00000366574.6:c.12499G>A	ENSP00000355533.2:p.Glu4167Lys
ENST00000609119.1:n.3694G>A
NM_001035.2:c.12499G>A	NP_001026.2:p.Glu4167Lys
XM_006711802.2:c.12553G>A	XP_006711865.1:p.Glu4185Lys
XM_006711803.2:c.12550G>A	XP_006711866.1:p.Glu4184Lys
XM_006711804.2:c.12529G>A	XP_006711867.1:p.Glu4177Lys
XM_006711805.2:c.12523G>A	XP_006711868.1:p.Glu4175Lys
XM_006711806.2:c.12517G>A	XP_006711869.1:p.Glu4173Lys
XM_006711807.2:c.12493G>A	XP_006711870.1:p.Glu4165Lys
XM_006711808.2:c.12316G>A	XP_006711871.1:p.Glu4106Lys
XM_006711810.2:c.12460G>A	XP_006711873.1:p.Glu4154Lys
XM_006711802.3:c.12553G>A	XP_006711865.1:p.Glu4185Lys
XM_006711803.3:c.12550G>A	XP_006711866.1:p.Glu4184Lys
XM_006711804.3:c.12529G>A	XP_006711867.1:p.Glu4177Lys
XM_006711805.3:c.12523G>A	XP_006711868.1:p.Glu4175Lys
XM_006711806.3:c.12517G>A	XP_006711869.1:p.Glu4173Lys
XM_006711807.3:c.12493G>A	XP_006711870.1:p.Glu4165Lys
XM_006711808.3:c.12316G>A	XP_006711871.1:p.Glu4106Lys
XM_006711810.3:c.12460G>A	XP_006711873.1:p.Glu4154Lys
XM_017002028.1:c.12532G>A	XP_016857517.1:p.Glu4178Lys
NM_001035.3:c.12499G>A MANE Select	NP_001026.2:p.Glu4167Lys