Canonical Allele Identifier: CA2487493467

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809168_237809170delinsTAA , CM000663.2:g.237809168_237809170delinsTAA	GRCh38
NC_000001.10:g.237972468_237972470delinsTAA , CM000663.1:g.237972468_237972470delinsTAA	GRCh37
NC_000001.9:g.236039091_236039093delinsTAA	NCBI36
NG_008799.2:g.771767_771769delinsTAA
NG_008799.3:g.771985_771987delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+133_*5525+135delinsTAA	ENSP00000499659.2:n.*5525+133_*5525+135delinsTAA
ENST00000659194.3:c.14415+133_14415+135delinsTAA	ENSP00000499653.3:n.14415+133_14415+135delinsTAA
ENST00000660292.2:c.14454+133_14454+135delinsTAA	ENSP00000499787.2:n.14454+133_14454+135delinsTAA
ENST00000659194.2:c.6604+133_6604+135delinsTAA
ENST00000366574.7:c.14433+133_14433+135delinsTAA MANE Select	ENSP00000355533.2:n.14433+133_14433+135delinsTAA
ENST00000360064.7:c.14382+133_14382+135delinsTAA	ENSP00000353174.7:n.14382+133_14382+135delinsTAA
ENST00000366574.6:c.14433+133_14433+135delinsTAA	ENSP00000355533.2:n.14433+133_14433+135delinsTAA
ENST00000608590.5:n.944+133_944+135delinsTAA
NM_001035.2:c.14433+133_14433+135delinsTAA	NP_001026.2:n.14433+133_14433+135delinsTAA
XM_006711802.2:c.14487+133_14487+135delinsTAA	XP_006711865.1:n.14487+133_14487+135delinsTAA
XM_006711803.2:c.14484+133_14484+135delinsTAA	XP_006711866.1:n.14484+133_14484+135delinsTAA
XM_006711804.2:c.14463+133_14463+135delinsTAA	XP_006711867.1:n.14463+133_14463+135delinsTAA
XM_006711805.2:c.14457+133_14457+135delinsTAA	XP_006711868.1:n.14457+133_14457+135delinsTAA
XM_006711806.2:c.14451+133_14451+135delinsTAA	XP_006711869.1:n.14451+133_14451+135delinsTAA
XM_006711807.2:c.14427+133_14427+135delinsTAA	XP_006711870.1:n.14427+133_14427+135delinsTAA
XM_006711808.2:c.14250+133_14250+135delinsTAA	XP_006711871.1:n.14250+133_14250+135delinsTAA
XM_006711810.2:c.14394+133_14394+135delinsTAA	XP_006711873.1:n.14394+133_14394+135delinsTAA
XM_006711802.3:c.14487+133_14487+135delinsTAA	XP_006711865.1:n.14487+133_14487+135delinsTAA
XM_006711803.3:c.14484+133_14484+135delinsTAA	XP_006711866.1:n.14484+133_14484+135delinsTAA
XM_006711804.3:c.14463+133_14463+135delinsTAA	XP_006711867.1:n.14463+133_14463+135delinsTAA
XM_006711805.3:c.14457+133_14457+135delinsTAA	XP_006711868.1:n.14457+133_14457+135delinsTAA
XM_006711806.3:c.14451+133_14451+135delinsTAA	XP_006711869.1:n.14451+133_14451+135delinsTAA
XM_006711807.3:c.14427+133_14427+135delinsTAA	XP_006711870.1:n.14427+133_14427+135delinsTAA
XM_006711808.3:c.14250+133_14250+135delinsTAA	XP_006711871.1:n.14250+133_14250+135delinsTAA
XM_006711810.3:c.14394+133_14394+135delinsTAA	XP_006711873.1:n.14394+133_14394+135delinsTAA
XM_017002028.1:c.14466+133_14466+135delinsTAA	XP_016857517.1:n.14466+133_14466+135delinsTAA
NM_001035.3:c.14433+133_14433+135delinsTAA MANE Select	NP_001026.2:n.14433+133_14433+135delinsTAA