Canonical Allele Identifier: CA345413668

Gene: RYR2

Linked Data

• ClinVar Variation Id: 656745
• ClinVar RCV Id: RCV002538155
• dbSNP Id: rs1573935244
• MyVariant Identifiers: chr1:g.237947590G>A (hg19) ; chr1:g.237784290G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784290G>A , CM000663.2:g.237784290G>A	GRCh38
NC_000001.10:g.237947590G>A , CM000663.1:g.237947590G>A	GRCh37
NC_000001.9:g.236014213G>A	NCBI36
NG_008799.2:g.746889G>A
NG_008799.3:g.747107G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3670G>A	ENSP00000499659.2:n.*3670G>A
ENST00000659194.3:c.12566G>A	ENSP00000499653.3:p.Cys4189Tyr
ENST00000660292.2:c.12599G>A	ENSP00000499787.2:p.Cys4200Tyr
ENST00000659194.2:c.4755G>A
ENST00000366574.7:c.12578G>A MANE Select	ENSP00000355533.2:p.Cys4193Tyr
ENST00000659194.1:c.4755G>A
ENST00000660292.1:c.2631G>A
ENST00000360064.7:c.12530G>A	ENSP00000353174.7:p.Cys4177Tyr
ENST00000366574.6:c.12578G>A	ENSP00000355533.2:p.Cys4193Tyr
ENST00000609119.1:n.3773G>A
NM_001035.2:c.12578G>A	NP_001026.2:p.Cys4193Tyr
XM_006711802.2:c.12632G>A	XP_006711865.1:p.Cys4211Tyr
XM_006711803.2:c.12629G>A	XP_006711866.1:p.Cys4210Tyr
XM_006711804.2:c.12608G>A	XP_006711867.1:p.Cys4203Tyr
XM_006711805.2:c.12602G>A	XP_006711868.1:p.Cys4201Tyr
XM_006711806.2:c.12596G>A	XP_006711869.1:p.Cys4199Tyr
XM_006711807.2:c.12572G>A	XP_006711870.1:p.Cys4191Tyr
XM_006711808.2:c.12395G>A	XP_006711871.1:p.Cys4132Tyr
XM_006711810.2:c.12539G>A	XP_006711873.1:p.Cys4180Tyr
XM_006711802.3:c.12632G>A	XP_006711865.1:p.Cys4211Tyr
XM_006711803.3:c.12629G>A	XP_006711866.1:p.Cys4210Tyr
XM_006711804.3:c.12608G>A	XP_006711867.1:p.Cys4203Tyr
XM_006711805.3:c.12602G>A	XP_006711868.1:p.Cys4201Tyr
XM_006711806.3:c.12596G>A	XP_006711869.1:p.Cys4199Tyr
XM_006711807.3:c.12572G>A	XP_006711870.1:p.Cys4191Tyr
XM_006711808.3:c.12395G>A	XP_006711871.1:p.Cys4132Tyr
XM_006711810.3:c.12539G>A	XP_006711873.1:p.Cys4180Tyr
XM_017002028.1:c.12611G>A	XP_016857517.1:p.Cys4204Tyr
NM_001035.3:c.12578G>A MANE Select	NP_001026.2:p.Cys4193Tyr