Canonical Allele Identifier: CA2487493454

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809140_237809144delinsTAAAC , CM000663.2:g.237809140_237809144delinsTAAAC	GRCh38
NC_000001.10:g.237972440_237972444delinsTAAAC , CM000663.1:g.237972440_237972444delinsTAAAC	GRCh37
NC_000001.9:g.236039063_236039067delinsTAAAC	NCBI36
NG_008799.2:g.771739_771743delinsTAAAC
NG_008799.3:g.771957_771961delinsTAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+105_*5525+109delinsTAAAC	ENSP00000499659.2:n.*5525+105_*5525+109delinsTAAAC
ENST00000659194.3:c.14415+105_14415+109delinsTAAAC	ENSP00000499653.3:n.14415+105_14415+109delinsTAAAC
ENST00000660292.2:c.14454+105_14454+109delinsTAAAC	ENSP00000499787.2:n.14454+105_14454+109delinsTAAAC
ENST00000659194.2:c.6604+105_6604+109delinsTAAAC
ENST00000366574.7:c.14433+105_14433+109delinsTAAAC MANE Select	ENSP00000355533.2:n.14433+105_14433+109delinsTAAAC
ENST00000360064.7:c.14382+105_14382+109delinsTAAAC	ENSP00000353174.7:n.14382+105_14382+109delinsTAAAC
ENST00000366574.6:c.14433+105_14433+109delinsTAAAC	ENSP00000355533.2:n.14433+105_14433+109delinsTAAAC
ENST00000608590.5:n.944+105_944+109delinsTAAAC
NM_001035.2:c.14433+105_14433+109delinsTAAAC	NP_001026.2:n.14433+105_14433+109delinsTAAAC
XM_006711802.2:c.14487+105_14487+109delinsTAAAC	XP_006711865.1:n.14487+105_14487+109delinsTAAAC
XM_006711803.2:c.14484+105_14484+109delinsTAAAC	XP_006711866.1:n.14484+105_14484+109delinsTAAAC
XM_006711804.2:c.14463+105_14463+109delinsTAAAC	XP_006711867.1:n.14463+105_14463+109delinsTAAAC
XM_006711805.2:c.14457+105_14457+109delinsTAAAC	XP_006711868.1:n.14457+105_14457+109delinsTAAAC
XM_006711806.2:c.14451+105_14451+109delinsTAAAC	XP_006711869.1:n.14451+105_14451+109delinsTAAAC
XM_006711807.2:c.14427+105_14427+109delinsTAAAC	XP_006711870.1:n.14427+105_14427+109delinsTAAAC
XM_006711808.2:c.14250+105_14250+109delinsTAAAC	XP_006711871.1:n.14250+105_14250+109delinsTAAAC
XM_006711810.2:c.14394+105_14394+109delinsTAAAC	XP_006711873.1:n.14394+105_14394+109delinsTAAAC
XM_006711802.3:c.14487+105_14487+109delinsTAAAC	XP_006711865.1:n.14487+105_14487+109delinsTAAAC
XM_006711803.3:c.14484+105_14484+109delinsTAAAC	XP_006711866.1:n.14484+105_14484+109delinsTAAAC
XM_006711804.3:c.14463+105_14463+109delinsTAAAC	XP_006711867.1:n.14463+105_14463+109delinsTAAAC
XM_006711805.3:c.14457+105_14457+109delinsTAAAC	XP_006711868.1:n.14457+105_14457+109delinsTAAAC
XM_006711806.3:c.14451+105_14451+109delinsTAAAC	XP_006711869.1:n.14451+105_14451+109delinsTAAAC
XM_006711807.3:c.14427+105_14427+109delinsTAAAC	XP_006711870.1:n.14427+105_14427+109delinsTAAAC
XM_006711808.3:c.14250+105_14250+109delinsTAAAC	XP_006711871.1:n.14250+105_14250+109delinsTAAAC
XM_006711810.3:c.14394+105_14394+109delinsTAAAC	XP_006711873.1:n.14394+105_14394+109delinsTAAAC
XM_017002028.1:c.14466+105_14466+109delinsTAAAC	XP_016857517.1:n.14466+105_14466+109delinsTAAAC
NM_001035.3:c.14433+105_14433+109delinsTAAAC MANE Select	NP_001026.2:n.14433+105_14433+109delinsTAAAC