Canonical Allele Identifier: CA345413888

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784386G>A , CM000663.2:g.237784386G>A	GRCh38
NC_000001.10:g.237947686G>A , CM000663.1:g.237947686G>A	GRCh37
NC_000001.9:g.236014309G>A	NCBI36
NG_008799.2:g.746985G>A
NG_008799.3:g.747203G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12674G>A MANE Select	NP_001026.2:p.Arg4225Lys
ENST00000366574.7:c.12674G>A MANE Select	ENSP00000355533.2:p.Arg4225Lys
NM_001035.2:c.12674G>A	NP_001026.2:p.Arg4225Lys
ENST00000360064.7:c.12626G>A	ENSP00000353174.7:p.Arg4209Lys
ENST00000366574.6:c.12674G>A	ENSP00000355533.2:p.Arg4225Lys
ENST00000609119.1:n.3869G>A
ENST00000609119.2:c.*3766G>A	ENSP00000499659.2:n.*3766G>A
ENST00000659194.1:c.4851G>A
ENST00000659194.2:c.4851G>A
ENST00000659194.3:c.12662G>A	ENSP00000499653.3:p.Arg4221Lys
ENST00000660292.1:c.2727G>A
ENST00000660292.2:c.12695G>A	ENSP00000499787.2:p.Arg4232Lys
XM_006711802.2:c.12728G>A	XP_006711865.1:p.Arg4243Lys
XM_006711802.3:c.12728G>A	XP_006711865.1:p.Arg4243Lys
XM_006711803.2:c.12725G>A	XP_006711866.1:p.Arg4242Lys
XM_006711803.3:c.12725G>A	XP_006711866.1:p.Arg4242Lys
XM_006711804.2:c.12704G>A	XP_006711867.1:p.Arg4235Lys
XM_006711804.3:c.12704G>A	XP_006711867.1:p.Arg4235Lys
XM_006711805.2:c.12698G>A	XP_006711868.1:p.Arg4233Lys
XM_006711805.3:c.12698G>A	XP_006711868.1:p.Arg4233Lys
XM_006711806.2:c.12692G>A	XP_006711869.1:p.Arg4231Lys
XM_006711806.3:c.12692G>A	XP_006711869.1:p.Arg4231Lys
XM_006711807.2:c.12668G>A	XP_006711870.1:p.Arg4223Lys
XM_006711807.3:c.12668G>A	XP_006711870.1:p.Arg4223Lys
XM_006711808.2:c.12491G>A	XP_006711871.1:p.Arg4164Lys
XM_006711808.3:c.12491G>A	XP_006711871.1:p.Arg4164Lys
XM_006711810.2:c.12635G>A	XP_006711873.1:p.Arg4212Lys
XM_006711810.3:c.12635G>A	XP_006711873.1:p.Arg4212Lys
XM_017002028.1:c.12707G>A	XP_016857517.1:p.Arg4236Lys