Canonical Allele Identifier: CA2487493449

Gene: RYR2

Linked Data

• dbSNP Id: rs1660983523

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809135_237809136del , CM000663.2:g.237809135_237809136del	GRCh38
NC_000001.10:g.237972435_237972436del , CM000663.1:g.237972435_237972436del	GRCh37
NC_000001.9:g.236039058_236039059del	NCBI36
NG_008799.2:g.771734_771735del
NG_008799.3:g.771952_771953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+100_*5525+101del	ENSP00000499659.2:n.*5525+100_*5525+101del
ENST00000659194.3:c.14415+100_14415+101del	ENSP00000499653.3:n.14415+100_14415+101del
ENST00000660292.2:c.14454+100_14454+101del	ENSP00000499787.2:n.14454+100_14454+101del
ENST00000659194.2:c.6604+100_6604+101del
ENST00000366574.7:c.14433+100_14433+101del MANE Select	ENSP00000355533.2:n.14433+100_14433+101del
ENST00000360064.7:c.14382+100_14382+101del	ENSP00000353174.7:n.14382+100_14382+101del
ENST00000366574.6:c.14433+100_14433+101del	ENSP00000355533.2:n.14433+100_14433+101del
ENST00000608590.5:n.944+100_944+101del
NM_001035.2:c.14433+100_14433+101del	NP_001026.2:n.14433+100_14433+101del
XM_006711802.2:c.14487+100_14487+101del	XP_006711865.1:n.14487+100_14487+101del
XM_006711803.2:c.14484+100_14484+101del	XP_006711866.1:n.14484+100_14484+101del
XM_006711804.2:c.14463+100_14463+101del	XP_006711867.1:n.14463+100_14463+101del
XM_006711805.2:c.14457+100_14457+101del	XP_006711868.1:n.14457+100_14457+101del
XM_006711806.2:c.14451+100_14451+101del	XP_006711869.1:n.14451+100_14451+101del
XM_006711807.2:c.14427+100_14427+101del	XP_006711870.1:n.14427+100_14427+101del
XM_006711808.2:c.14250+100_14250+101del	XP_006711871.1:n.14250+100_14250+101del
XM_006711810.2:c.14394+100_14394+101del	XP_006711873.1:n.14394+100_14394+101del
XM_006711802.3:c.14487+100_14487+101del	XP_006711865.1:n.14487+100_14487+101del
XM_006711803.3:c.14484+100_14484+101del	XP_006711866.1:n.14484+100_14484+101del
XM_006711804.3:c.14463+100_14463+101del	XP_006711867.1:n.14463+100_14463+101del
XM_006711805.3:c.14457+100_14457+101del	XP_006711868.1:n.14457+100_14457+101del
XM_006711806.3:c.14451+100_14451+101del	XP_006711869.1:n.14451+100_14451+101del
XM_006711807.3:c.14427+100_14427+101del	XP_006711870.1:n.14427+100_14427+101del
XM_006711808.3:c.14250+100_14250+101del	XP_006711871.1:n.14250+100_14250+101del
XM_006711810.3:c.14394+100_14394+101del	XP_006711873.1:n.14394+100_14394+101del
XM_017002028.1:c.14466+100_14466+101del	XP_016857517.1:n.14466+100_14466+101del
NM_001035.3:c.14433+100_14433+101del MANE Select	NP_001026.2:n.14433+100_14433+101del