Canonical Allele Identifier: CA39827745

Gene: RYR2

Linked Data

• ClinVar Variation Id: 959953
• ClinVar RCV Id: RCV002418801 ; RCV002563796 ; RCV004004850
• dbSNP Id: rs867488053
• gnomAD v4: 1-237784247-G-A
• COSMIC: COSM216261 ; COSM4964221
• MyVariant Identifiers: chr1:g.237947547G>A (hg19) ; chr1:g.237784247G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784247G>A , CM000663.2:g.237784247G>A	GRCh38
NC_000001.10:g.237947547G>A , CM000663.1:g.237947547G>A	GRCh37
NC_000001.9:g.236014170G>A	NCBI36
NG_008799.2:g.746846G>A
NG_008799.3:g.747064G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3627G>A	ENSP00000499659.2:n.*3627G>A
ENST00000659194.3:c.12523G>A	ENSP00000499653.3:p.Glu4175Lys
ENST00000660292.2:c.12556G>A	ENSP00000499787.2:p.Glu4186Lys
ENST00000659194.2:c.4712G>A
ENST00000366574.7:c.12535G>A MANE Select	ENSP00000355533.2:p.Glu4179Lys
ENST00000659194.1:c.4712G>A
ENST00000660292.1:c.2588G>A
ENST00000360064.7:c.12487G>A	ENSP00000353174.7:p.Glu4163Lys
ENST00000366574.6:c.12535G>A	ENSP00000355533.2:p.Glu4179Lys
ENST00000609119.1:n.3730G>A
NM_001035.2:c.12535G>A	NP_001026.2:p.Glu4179Lys
XM_006711802.2:c.12589G>A	XP_006711865.1:p.Glu4197Lys
XM_006711803.2:c.12586G>A	XP_006711866.1:p.Glu4196Lys
XM_006711804.2:c.12565G>A	XP_006711867.1:p.Glu4189Lys
XM_006711805.2:c.12559G>A	XP_006711868.1:p.Glu4187Lys
XM_006711806.2:c.12553G>A	XP_006711869.1:p.Glu4185Lys
XM_006711807.2:c.12529G>A	XP_006711870.1:p.Glu4177Lys
XM_006711808.2:c.12352G>A	XP_006711871.1:p.Glu4118Lys
XM_006711810.2:c.12496G>A	XP_006711873.1:p.Glu4166Lys
XM_006711802.3:c.12589G>A	XP_006711865.1:p.Glu4197Lys
XM_006711803.3:c.12586G>A	XP_006711866.1:p.Glu4196Lys
XM_006711804.3:c.12565G>A	XP_006711867.1:p.Glu4189Lys
XM_006711805.3:c.12559G>A	XP_006711868.1:p.Glu4187Lys
XM_006711806.3:c.12553G>A	XP_006711869.1:p.Glu4185Lys
XM_006711807.3:c.12529G>A	XP_006711870.1:p.Glu4177Lys
XM_006711808.3:c.12352G>A	XP_006711871.1:p.Glu4118Lys
XM_006711810.3:c.12496G>A	XP_006711873.1:p.Glu4166Lys
XM_017002028.1:c.12568G>A	XP_016857517.1:p.Glu4190Lys
NM_001035.3:c.12535G>A MANE Select	NP_001026.2:p.Glu4179Lys