Canonical Allele Identifier: CA345410956

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237832607G>A , CM000663.2:g.237832607G>A	GRCh38
NC_000001.10:g.237995907G>A , CM000663.1:g.237995907G>A	GRCh37
NC_000001.9:g.236062530G>A	NCBI36
NG_008799.2:g.795206G>A
NG_008799.3:g.795424G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5956G>A	ENSP00000499659.2:n.*5956G>A
ENST00000659194.3:c.14846G>A	ENSP00000499653.3:p.Gly4949Glu
ENST00000660292.2:c.14885G>A	ENSP00000499787.2:p.Gly4962Glu
ENST00000659194.2:c.7035G>A
ENST00000366574.7:c.14864G>A MANE Select	ENSP00000355533.2:p.Gly4955Glu
ENST00000360064.7:c.14813G>A	ENSP00000353174.7:p.Gly4938Glu
ENST00000366574.6:c.14864G>A	ENSP00000355533.2:p.Gly4955Glu
ENST00000462585.1:n.707G>A
ENST00000608590.5:n.1274G>A
NM_001035.2:c.14864G>A	NP_001026.2:p.Gly4955Glu
XM_006711802.2:c.14918G>A	XP_006711865.1:p.Gly4973Glu
XM_006711803.2:c.14915G>A	XP_006711866.1:p.Gly4972Glu
XM_006711804.2:c.14894G>A	XP_006711867.1:p.Gly4965Glu
XM_006711805.2:c.14888G>A	XP_006711868.1:p.Gly4963Glu
XM_006711806.2:c.14882G>A	XP_006711869.1:p.Gly4961Glu
XM_006711807.2:c.14858G>A	XP_006711870.1:p.Gly4953Glu
XM_006711808.2:c.14681G>A	XP_006711871.1:p.Gly4894Glu
XM_006711810.2:c.14825G>A	XP_006711873.1:p.Gly4942Glu
XM_006711802.3:c.14918G>A	XP_006711865.1:p.Gly4973Glu
XM_006711803.3:c.14915G>A	XP_006711866.1:p.Gly4972Glu
XM_006711804.3:c.14894G>A	XP_006711867.1:p.Gly4965Glu
XM_006711805.3:c.14888G>A	XP_006711868.1:p.Gly4963Glu
XM_006711806.3:c.14882G>A	XP_006711869.1:p.Gly4961Glu
XM_006711807.3:c.14858G>A	XP_006711870.1:p.Gly4953Glu
XM_006711808.3:c.14681G>A	XP_006711871.1:p.Gly4894Glu
XM_006711810.3:c.14825G>A	XP_006711873.1:p.Gly4942Glu
XM_017002028.1:c.14897G>A	XP_016857517.1:p.Gly4966Glu
NM_001035.3:c.14864G>A MANE Select	NP_001026.2:p.Gly4955Glu