Canonical Allele Identifier: CA010968

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237660889G>A , CM000663.2:g.237660889G>A	GRCh38
NC_000001.10:g.237824189G>A , CM000663.1:g.237824189G>A	GRCh37
NC_000001.9:g.235890812G>A	NCBI36
NG_008799.2:g.623488G>A
NG_008799.3:g.623706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8378G>A	ENSP00000499659.2:p.Arg2793Gln
ENST00000659194.3:c.8378G>A	ENSP00000499653.3:p.Arg2793Gln
ENST00000660292.2:c.8378G>A	ENSP00000499787.2:p.Arg2793Gln
ENST00000659194.2:c.567G>A
ENST00000366574.7:c.8378G>A MANE Select	ENSP00000355533.2:p.Arg2793Gln
ENST00000659194.1:c.567G>A
ENST00000360064.7:c.8330G>A	ENSP00000353174.7:p.Arg2777Gln
ENST00000366574.6:c.8378G>A	ENSP00000355533.2:p.Arg2793Gln
NM_001035.2:c.8378G>A	NP_001026.2:p.Arg2793Gln
XM_006711802.2:c.8408G>A	XP_006711865.1:p.Arg2803Gln
XM_006711803.2:c.8405G>A	XP_006711866.1:p.Arg2802Gln
XM_006711804.2:c.8408G>A	XP_006711867.1:p.Arg2803Gln
XM_006711805.2:c.8378G>A	XP_006711868.1:p.Arg2793Gln
XM_006711806.2:c.8408G>A	XP_006711869.1:p.Arg2803Gln
XM_006711807.2:c.8408G>A	XP_006711870.1:p.Arg2803Gln
XM_006711808.2:c.8408G>A	XP_006711871.1:p.Arg2803Gln
XM_006711810.2:c.8375G>A	XP_006711873.1:p.Arg2792Gln
XR_949152.1:n.8689G>A
XM_006711802.3:c.8408G>A	XP_006711865.1:p.Arg2803Gln
XM_006711803.3:c.8405G>A	XP_006711866.1:p.Arg2802Gln
XM_006711804.3:c.8408G>A	XP_006711867.1:p.Arg2803Gln
XM_006711805.3:c.8378G>A	XP_006711868.1:p.Arg2793Gln
XM_006711806.3:c.8408G>A	XP_006711869.1:p.Arg2803Gln
XM_006711807.3:c.8408G>A	XP_006711870.1:p.Arg2803Gln
XM_006711808.3:c.8408G>A	XP_006711871.1:p.Arg2803Gln
XM_006711810.3:c.8375G>A	XP_006711873.1:p.Arg2792Gln
XM_017002028.1:c.8387G>A	XP_016857517.1:p.Arg2796Gln
XR_002957299.1:n.8789G>A
XR_949152.2:n.8722G>A
NM_001035.3:c.8378G>A MANE Select	NP_001026.2:p.Arg2793Gln