Canonical Allele Identifier: CA008450

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237832619G>A , CM000663.2:g.237832619G>A	GRCh38
NC_000001.10:g.237995919G>A , CM000663.1:g.237995919G>A	GRCh37
NC_000001.9:g.236062542G>A	NCBI36
NG_008799.2:g.795218G>A
NG_008799.3:g.795436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5968G>A	ENSP00000499659.2:n.*5968G>A
ENST00000659194.3:c.14858G>A	ENSP00000499653.3:p.Arg4953Gln
ENST00000660292.2:c.14897G>A	ENSP00000499787.2:p.Arg4966Gln
ENST00000659194.2:c.7047G>A
ENST00000366574.7:c.14876G>A MANE Select	ENSP00000355533.2:p.Arg4959Gln
ENST00000360064.7:c.14825G>A	ENSP00000353174.7:p.Arg4942Gln
ENST00000366574.6:c.14876G>A	ENSP00000355533.2:p.Arg4959Gln
ENST00000462585.1:n.719G>A
ENST00000608590.5:n.1286G>A
NM_001035.2:c.14876G>A	NP_001026.2:p.Arg4959Gln
XM_006711802.2:c.14930G>A	XP_006711865.1:p.Arg4977Gln
XM_006711803.2:c.14927G>A	XP_006711866.1:p.Arg4976Gln
XM_006711804.2:c.14906G>A	XP_006711867.1:p.Arg4969Gln
XM_006711805.2:c.14900G>A	XP_006711868.1:p.Arg4967Gln
XM_006711806.2:c.14894G>A	XP_006711869.1:p.Arg4965Gln
XM_006711807.2:c.14870G>A	XP_006711870.1:p.Arg4957Gln
XM_006711808.2:c.14693G>A	XP_006711871.1:p.Arg4898Gln
XM_006711810.2:c.14837G>A	XP_006711873.1:p.Arg4946Gln
XM_006711802.3:c.14930G>A	XP_006711865.1:p.Arg4977Gln
XM_006711803.3:c.14927G>A	XP_006711866.1:p.Arg4976Gln
XM_006711804.3:c.14906G>A	XP_006711867.1:p.Arg4969Gln
XM_006711805.3:c.14900G>A	XP_006711868.1:p.Arg4967Gln
XM_006711806.3:c.14894G>A	XP_006711869.1:p.Arg4965Gln
XM_006711807.3:c.14870G>A	XP_006711870.1:p.Arg4957Gln
XM_006711808.3:c.14693G>A	XP_006711871.1:p.Arg4898Gln
XM_006711810.3:c.14837G>A	XP_006711873.1:p.Arg4946Gln
XM_017002028.1:c.14909G>A	XP_016857517.1:p.Arg4970Gln
NM_001035.3:c.14876G>A MANE Select	NP_001026.2:p.Arg4959Gln