Canonical Allele Identifier: CA2487493424

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809074_237809077delinsTCTC , CM000663.2:g.237809074_237809077delinsTCTC	GRCh38
NC_000001.10:g.237972374_237972377delinsTCTC , CM000663.1:g.237972374_237972377delinsTCTC	GRCh37
NC_000001.9:g.236038997_236039000delinsTCTC	NCBI36
NG_008799.2:g.771673_771676delinsTCTC
NG_008799.3:g.771891_771894delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5525+39_*5525+42delinsTCTC	ENSP00000499659.2:n.*5525+39_*5525+42delinsTCTC
ENST00000659194.3:c.14415+39_14415+42delinsTCTC	ENSP00000499653.3:n.14415+39_14415+42delinsTCTC
ENST00000660292.2:c.14454+39_14454+42delinsTCTC	ENSP00000499787.2:n.14454+39_14454+42delinsTCTC
ENST00000659194.2:c.6604+39_6604+42delinsTCTC
ENST00000366574.7:c.14433+39_14433+42delinsTCTC MANE Select	ENSP00000355533.2:n.14433+39_14433+42delinsTCTC
ENST00000360064.7:c.14382+39_14382+42delinsTCTC	ENSP00000353174.7:n.14382+39_14382+42delinsTCTC
ENST00000366574.6:c.14433+39_14433+42delinsTCTC	ENSP00000355533.2:n.14433+39_14433+42delinsTCTC
ENST00000608590.5:n.944+39_944+42delinsTCTC
NM_001035.2:c.14433+39_14433+42delinsTCTC	NP_001026.2:n.14433+39_14433+42delinsTCTC
XM_006711802.2:c.14487+39_14487+42delinsTCTC	XP_006711865.1:n.14487+39_14487+42delinsTCTC
XM_006711803.2:c.14484+39_14484+42delinsTCTC	XP_006711866.1:n.14484+39_14484+42delinsTCTC
XM_006711804.2:c.14463+39_14463+42delinsTCTC	XP_006711867.1:n.14463+39_14463+42delinsTCTC
XM_006711805.2:c.14457+39_14457+42delinsTCTC	XP_006711868.1:n.14457+39_14457+42delinsTCTC
XM_006711806.2:c.14451+39_14451+42delinsTCTC	XP_006711869.1:n.14451+39_14451+42delinsTCTC
XM_006711807.2:c.14427+39_14427+42delinsTCTC	XP_006711870.1:n.14427+39_14427+42delinsTCTC
XM_006711808.2:c.14250+39_14250+42delinsTCTC	XP_006711871.1:n.14250+39_14250+42delinsTCTC
XM_006711810.2:c.14394+39_14394+42delinsTCTC	XP_006711873.1:n.14394+39_14394+42delinsTCTC
XM_006711802.3:c.14487+39_14487+42delinsTCTC	XP_006711865.1:n.14487+39_14487+42delinsTCTC
XM_006711803.3:c.14484+39_14484+42delinsTCTC	XP_006711866.1:n.14484+39_14484+42delinsTCTC
XM_006711804.3:c.14463+39_14463+42delinsTCTC	XP_006711867.1:n.14463+39_14463+42delinsTCTC
XM_006711805.3:c.14457+39_14457+42delinsTCTC	XP_006711868.1:n.14457+39_14457+42delinsTCTC
XM_006711806.3:c.14451+39_14451+42delinsTCTC	XP_006711869.1:n.14451+39_14451+42delinsTCTC
XM_006711807.3:c.14427+39_14427+42delinsTCTC	XP_006711870.1:n.14427+39_14427+42delinsTCTC
XM_006711808.3:c.14250+39_14250+42delinsTCTC	XP_006711871.1:n.14250+39_14250+42delinsTCTC
XM_006711810.3:c.14394+39_14394+42delinsTCTC	XP_006711873.1:n.14394+39_14394+42delinsTCTC
XM_017002028.1:c.14466+39_14466+42delinsTCTC	XP_016857517.1:n.14466+39_14466+42delinsTCTC
NM_001035.3:c.14433+39_14433+42delinsTCTC MANE Select	NP_001026.2:n.14433+39_14433+42delinsTCTC