Canonical Allele Identifier: CA658655635

Gene: RYR2

Linked Data

• ClinVar Variation Id: 463555
• ClinVar RCV Id: RCV002528358
• dbSNP Id: rs1553322884
• MyVariant Identifiers: chr1:g.237947522_237947525dup (hg19) ; chr1:g.237784222_237784225dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784222_237784225dup , CM000663.2:g.237784222_237784225dup	GRCh38
NC_000001.10:g.237947522_237947525dup , CM000663.1:g.237947522_237947525dup	GRCh37
NC_000001.9:g.236014145_236014148dup	NCBI36
NG_008799.2:g.746821_746824dup
NG_008799.3:g.747039_747042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3602_*3605dup	ENSP00000499659.2:n.*3602_*3605dup
ENST00000659194.3:c.12498_12501dup	ENSP00000499653.3:p.Phe4168ThrfsTer5
ENST00000660292.2:c.12531_12534dup	ENSP00000499787.2:p.Phe4179ThrfsTer5
ENST00000659194.2:c.4687_4690dup
ENST00000366574.7:c.12510_12513dup MANE Select	ENSP00000355533.2:p.Phe4172ThrfsTer5
ENST00000659194.1:c.4687_4690dup
ENST00000660292.1:c.2563_2566dup
ENST00000360064.7:c.12462_12465dup	ENSP00000353174.7:p.Phe4156ThrfsTer5
ENST00000366574.6:c.12510_12513dup	ENSP00000355533.2:p.Phe4172ThrfsTer5
ENST00000609119.1:n.3705_3708dup
NM_001035.2:c.12510_12513dup	NP_001026.2:p.Phe4172ThrfsTer5
XM_006711802.2:c.12564_12567dup	XP_006711865.1:p.Phe4190ThrfsTer5
XM_006711803.2:c.12561_12564dup	XP_006711866.1:p.Phe4189ThrfsTer5
XM_006711804.2:c.12540_12543dup	XP_006711867.1:p.Phe4182ThrfsTer5
XM_006711805.2:c.12534_12537dup	XP_006711868.1:p.Phe4180ThrfsTer5
XM_006711806.2:c.12528_12531dup	XP_006711869.1:p.Phe4178ThrfsTer5
XM_006711807.2:c.12504_12507dup	XP_006711870.1:p.Phe4170ThrfsTer5
XM_006711808.2:c.12327_12330dup	XP_006711871.1:p.Phe4111ThrfsTer5
XM_006711810.2:c.12471_12474dup	XP_006711873.1:p.Phe4159ThrfsTer5
XM_006711802.3:c.12564_12567dup	XP_006711865.1:p.Phe4190ThrfsTer5
XM_006711803.3:c.12561_12564dup	XP_006711866.1:p.Phe4189ThrfsTer5
XM_006711804.3:c.12540_12543dup	XP_006711867.1:p.Phe4182ThrfsTer5
XM_006711805.3:c.12534_12537dup	XP_006711868.1:p.Phe4180ThrfsTer5
XM_006711806.3:c.12528_12531dup	XP_006711869.1:p.Phe4178ThrfsTer5
XM_006711807.3:c.12504_12507dup	XP_006711870.1:p.Phe4170ThrfsTer5
XM_006711808.3:c.12327_12330dup	XP_006711871.1:p.Phe4111ThrfsTer5
XM_006711810.3:c.12471_12474dup	XP_006711873.1:p.Phe4159ThrfsTer5
XM_017002028.1:c.12543_12546dup	XP_016857517.1:p.Phe4183ThrfsTer5
NM_001035.3:c.12510_12513dup MANE Select	NP_001026.2:p.Phe4172ThrfsTer5