Canonical Allele Identifier: CA2487482491

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784376_237784379delinsGAGA , CM000663.2:g.237784376_237784379delinsGAGA	GRCh38
NC_000001.10:g.237947676_237947679delinsGAGA , CM000663.1:g.237947676_237947679delinsGAGA	GRCh37
NC_000001.9:g.236014299_236014302delinsGAGA	NCBI36
NG_008799.2:g.746975_746978delinsGAGA
NG_008799.3:g.747193_747196delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3756_*3759delinsGAGA	ENSP00000499659.2:n.*3756_*3759delinsGAGA
ENST00000659194.3:c.12652_12655delinsGAGA	ENSP00000499653.3:p.Glu4218=
ENST00000660292.2:c.12685_12688delinsGAGA	ENSP00000499787.2:p.Glu4229=
ENST00000659194.2:c.4841_4844delinsGAGA
ENST00000366574.7:c.12664_12667delinsGAGA MANE Select	ENSP00000355533.2:p.Glu4222=
ENST00000659194.1:c.4841_4844delinsGAGA
ENST00000660292.1:c.2717_2720delinsGAGA
ENST00000360064.7:c.12616_12619delinsGAGA	ENSP00000353174.7:p.Glu4206=
ENST00000366574.6:c.12664_12667delinsGAGA	ENSP00000355533.2:p.Glu4222=
ENST00000609119.1:n.3859_3862delinsGAGA
NM_001035.2:c.12664_12667delinsGAGA	NP_001026.2:p.Glu4222=
XM_006711802.2:c.12718_12721delinsGAGA	XP_006711865.1:p.Glu4240=
XM_006711803.2:c.12715_12718delinsGAGA	XP_006711866.1:p.Glu4239=
XM_006711804.2:c.12694_12697delinsGAGA	XP_006711867.1:p.Glu4232=
XM_006711805.2:c.12688_12691delinsGAGA	XP_006711868.1:p.Glu4230=
XM_006711806.2:c.12682_12685delinsGAGA	XP_006711869.1:p.Glu4228=
XM_006711807.2:c.12658_12661delinsGAGA	XP_006711870.1:p.Glu4220=
XM_006711808.2:c.12481_12484delinsGAGA	XP_006711871.1:p.Glu4161=
XM_006711810.2:c.12625_12628delinsGAGA	XP_006711873.1:p.Glu4209=
XM_006711802.3:c.12718_12721delinsGAGA	XP_006711865.1:p.Glu4240=
XM_006711803.3:c.12715_12718delinsGAGA	XP_006711866.1:p.Glu4239=
XM_006711804.3:c.12694_12697delinsGAGA	XP_006711867.1:p.Glu4232=
XM_006711805.3:c.12688_12691delinsGAGA	XP_006711868.1:p.Glu4230=
XM_006711806.3:c.12682_12685delinsGAGA	XP_006711869.1:p.Glu4228=
XM_006711807.3:c.12658_12661delinsGAGA	XP_006711870.1:p.Glu4220=
XM_006711808.3:c.12481_12484delinsGAGA	XP_006711871.1:p.Glu4161=
XM_006711810.3:c.12625_12628delinsGAGA	XP_006711873.1:p.Glu4209=
XM_017002028.1:c.12697_12700delinsGAGA	XP_016857517.1:p.Glu4233=
NM_001035.3:c.12664_12667delinsGAGA MANE Select	NP_001026.2:p.Glu4222=