Canonical Allele Identifier: CA068267

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2709667
• ClinVar RCV Id: RCV003525751

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809005_237809006del , CM000663.2:g.237809005_237809006del	GRCh38
NC_000001.10:g.237972305_237972306del , CM000663.1:g.237972305_237972306del	GRCh37
NC_000001.9:g.236038928_236038929del	NCBI36
NG_008799.2:g.771604_771605del
NG_008799.3:g.771822_771823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5495_*5496del	ENSP00000499659.2:n.*5495_*5496del
ENST00000659194.3:c.14385_14386del	ENSP00000499653.3:p.Pro4796ArgfsTer5
ENST00000660292.2:c.14424_14425del	ENSP00000499787.2:p.Pro4809ArgfsTer5
ENST00000659194.2:c.6574_6575del
ENST00000366574.7:c.14403_14404del MANE Select	ENSP00000355533.2:p.Pro4802ArgfsTer5
ENST00000360064.7:c.14352_14353del	ENSP00000353174.7:p.Pro4785ArgfsTer5
ENST00000366574.6:c.14403_14404del	ENSP00000355533.2:p.Pro4802ArgfsTer5
ENST00000608590.5:n.914_915del
NM_001035.2:c.14403_14404del	NP_001026.2:p.Pro4802ArgfsTer5
XM_006711802.2:c.14457_14458del	XP_006711865.1:p.Pro4820ArgfsTer5
XM_006711803.2:c.14454_14455del	XP_006711866.1:p.Pro4819ArgfsTer5
XM_006711804.2:c.14433_14434del	XP_006711867.1:p.Pro4812ArgfsTer5
XM_006711805.2:c.14427_14428del	XP_006711868.1:p.Pro4810ArgfsTer5
XM_006711806.2:c.14421_14422del	XP_006711869.1:p.Pro4808ArgfsTer5
XM_006711807.2:c.14397_14398del	XP_006711870.1:p.Pro4800ArgfsTer5
XM_006711808.2:c.14220_14221del	XP_006711871.1:p.Pro4741ArgfsTer5
XM_006711810.2:c.14364_14365del	XP_006711873.1:p.Pro4789ArgfsTer5
XM_006711802.3:c.14457_14458del	XP_006711865.1:p.Pro4820ArgfsTer5
XM_006711803.3:c.14454_14455del	XP_006711866.1:p.Pro4819ArgfsTer5
XM_006711804.3:c.14433_14434del	XP_006711867.1:p.Pro4812ArgfsTer5
XM_006711805.3:c.14427_14428del	XP_006711868.1:p.Pro4810ArgfsTer5
XM_006711806.3:c.14421_14422del	XP_006711869.1:p.Pro4808ArgfsTer5
XM_006711807.3:c.14397_14398del	XP_006711870.1:p.Pro4800ArgfsTer5
XM_006711808.3:c.14220_14221del	XP_006711871.1:p.Pro4741ArgfsTer5
XM_006711810.3:c.14364_14365del	XP_006711873.1:p.Pro4789ArgfsTer5
XM_017002028.1:c.14436_14437del	XP_016857517.1:p.Pro4813ArgfsTer5
NM_001035.3:c.14403_14404del MANE Select	NP_001026.2:p.Pro4802ArgfsTer5