Canonical Allele Identifier: CA009784

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201367
• ClinVar RCV Id: RCV000182856
• dbSNP Id: rs794728812
• MyVariant Identifiers: chr1:g.237540671_237540673del (hg19) ; chr1:g.237377371_237377373del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237377371_237377373del , CM000663.2:g.237377371_237377373del	GRCh38
NC_000001.10:g.237540671_237540673del , CM000663.1:g.237540671_237540673del	GRCh37
NC_000001.9:g.235607294_235607296del	NCBI36
NG_008799.2:g.339970_339972del
NG_008799.3:g.340188_340190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.512_514del	ENSP00000499659.2:p.Glu171del
ENST00000659194.3:c.512_514del	ENSP00000499653.3:p.Glu171del
ENST00000660292.2:c.512_514del	ENSP00000499787.2:p.Glu171del
ENST00000366574.7:c.512_514del MANE Select	ENSP00000355533.2:p.Glu171del
ENST00000360064.7:c.464_466del	ENSP00000353174.7:p.Glu155del
ENST00000366574.6:c.512_514del	ENSP00000355533.2:p.Glu171del
NM_001035.2:c.512_514del	NP_001026.2:p.Glu171del
XM_006711802.2:c.512_514del	XP_006711865.1:p.Glu171del
XM_006711803.2:c.512_514del	XP_006711866.1:p.Glu171del
XM_006711804.2:c.512_514del	XP_006711867.1:p.Glu171del
XM_006711805.2:c.512_514del	XP_006711868.1:p.Glu171del
XM_006711806.2:c.512_514del	XP_006711869.1:p.Glu171del
XM_006711807.2:c.512_514del	XP_006711870.1:p.Glu171del
XM_006711808.2:c.512_514del	XP_006711871.1:p.Glu171del
XM_006711809.2:c.512_514del	XP_006711872.1:p.Glu171del
XM_006711810.2:c.512_514del	XP_006711873.1:p.Glu171del
XR_949152.1:n.793_795del
XM_006711802.3:c.512_514del	XP_006711865.1:p.Glu171del
XM_006711803.3:c.512_514del	XP_006711866.1:p.Glu171del
XM_006711804.3:c.512_514del	XP_006711867.1:p.Glu171del
XM_006711805.3:c.512_514del	XP_006711868.1:p.Glu171del
XM_006711806.3:c.512_514del	XP_006711869.1:p.Glu171del
XM_006711807.3:c.512_514del	XP_006711870.1:p.Glu171del
XM_006711808.3:c.512_514del	XP_006711871.1:p.Glu171del
XM_006711810.3:c.512_514del	XP_006711873.1:p.Glu171del
XM_017002028.1:c.491_493del	XP_016857517.1:p.Glu164del
XR_002957299.1:n.826_828del
XR_949152.2:n.826_828del
NM_001035.3:c.512_514del MANE Select	NP_001026.2:p.Glu171del