Canonical Allele Identifier: CA2580611239

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1363465
• ClinVar RCV Id: RCV002550298
• dbSNP Id: rs2149792684

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237377333_237377335del , CM000663.2:g.237377333_237377335del	GRCh38
NC_000001.10:g.237540633_237540635del , CM000663.1:g.237540633_237540635del	GRCh37
NC_000001.9:g.235607256_235607258del	NCBI36
NG_008799.2:g.339932_339934del
NG_008799.3:g.340150_340152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.474_476del	ENSP00000499659.2:p.Cys158del
ENST00000659194.3:c.474_476del	ENSP00000499653.3:p.Cys158del
ENST00000660292.2:c.474_476del	ENSP00000499787.2:p.Cys158del
ENST00000366574.7:c.474_476del MANE Select	ENSP00000355533.2:p.Cys158del
ENST00000360064.7:c.426_428del	ENSP00000353174.7:p.Cys142del
ENST00000366574.6:c.474_476del	ENSP00000355533.2:p.Cys158del
NM_001035.2:c.474_476del	NP_001026.2:p.Cys158del
XM_006711802.2:c.474_476del	XP_006711865.1:p.Cys158del
XM_006711803.2:c.474_476del	XP_006711866.1:p.Cys158del
XM_006711804.2:c.474_476del	XP_006711867.1:p.Cys158del
XM_006711805.2:c.474_476del	XP_006711868.1:p.Cys158del
XM_006711806.2:c.474_476del	XP_006711869.1:p.Cys158del
XM_006711807.2:c.474_476del	XP_006711870.1:p.Cys158del
XM_006711808.2:c.474_476del	XP_006711871.1:p.Cys158del
XM_006711809.2:c.474_476del	XP_006711872.1:p.Cys158del
XM_006711810.2:c.474_476del	XP_006711873.1:p.Cys158del
XR_949152.1:n.755_757del
XM_006711802.3:c.474_476del	XP_006711865.1:p.Cys158del
XM_006711803.3:c.474_476del	XP_006711866.1:p.Cys158del
XM_006711804.3:c.474_476del	XP_006711867.1:p.Cys158del
XM_006711805.3:c.474_476del	XP_006711868.1:p.Cys158del
XM_006711806.3:c.474_476del	XP_006711869.1:p.Cys158del
XM_006711807.3:c.474_476del	XP_006711870.1:p.Cys158del
XM_006711808.3:c.474_476del	XP_006711871.1:p.Cys158del
XM_006711810.3:c.474_476del	XP_006711873.1:p.Cys158del
XM_017002028.1:c.453_455del	XP_016857517.1:p.Cys151del
XR_002957299.1:n.788_790del
XR_949152.2:n.788_790del
NM_001035.3:c.474_476del MANE Select	NP_001026.2:p.Cys158del