Canonical Allele Identifier: CA2825000939

Gene: RYR2

Linked Data

• ClinVar Variation Id: 3069456
• ClinVar RCV Id: RCV004008000

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808968del , CM000663.2:g.237808968del	GRCh38
NC_000001.10:g.237972268del , CM000663.1:g.237972268del	GRCh37
NC_000001.9:g.236038891del	NCBI36
NG_008799.2:g.771567del
NG_008799.3:g.771785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5458del	ENSP00000499659.2:n.*5458del
ENST00000659194.3:c.14348del	ENSP00000499653.3:p.Phe4783SerfsTer16
ENST00000660292.2:c.14387del	ENSP00000499787.2:p.Phe4796SerfsTer16
ENST00000659194.2:c.6537del
ENST00000366574.7:c.14366del MANE Select	ENSP00000355533.2:p.Phe4789SerfsTer16
ENST00000360064.7:c.14315del	ENSP00000353174.7:p.Phe4772SerfsTer16
ENST00000366574.6:c.14366del	ENSP00000355533.2:p.Phe4789SerfsTer16
ENST00000608590.5:n.877del
NM_001035.2:c.14366del	NP_001026.2:p.Phe4789SerfsTer16
XM_006711802.2:c.14420del	XP_006711865.1:p.Phe4807SerfsTer16
XM_006711803.2:c.14417del	XP_006711866.1:p.Phe4806SerfsTer16
XM_006711804.2:c.14396del	XP_006711867.1:p.Phe4799SerfsTer16
XM_006711805.2:c.14390del	XP_006711868.1:p.Phe4797SerfsTer16
XM_006711806.2:c.14384del	XP_006711869.1:p.Phe4795SerfsTer16
XM_006711807.2:c.14360del	XP_006711870.1:p.Phe4787SerfsTer16
XM_006711808.2:c.14183del	XP_006711871.1:p.Phe4728SerfsTer16
XM_006711810.2:c.14327del	XP_006711873.1:p.Phe4776SerfsTer16
XM_006711802.3:c.14420del	XP_006711865.1:p.Phe4807SerfsTer16
XM_006711803.3:c.14417del	XP_006711866.1:p.Phe4806SerfsTer16
XM_006711804.3:c.14396del	XP_006711867.1:p.Phe4799SerfsTer16
XM_006711805.3:c.14390del	XP_006711868.1:p.Phe4797SerfsTer16
XM_006711806.3:c.14384del	XP_006711869.1:p.Phe4795SerfsTer16
XM_006711807.3:c.14360del	XP_006711870.1:p.Phe4787SerfsTer16
XM_006711808.3:c.14183del	XP_006711871.1:p.Phe4728SerfsTer16
XM_006711810.3:c.14327del	XP_006711873.1:p.Phe4776SerfsTer16
XM_017002028.1:c.14399del	XP_016857517.1:p.Phe4800SerfsTer16
NM_001035.3:c.14366del MANE Select	NP_001026.2:p.Phe4789SerfsTer16