Canonical Allele Identifier: CA087613

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1658084
• ClinVar RCV Id: RCV002409598 ; RCV003081088 ; RCV004005502
• dbSNP Id: rs776594549
• ExAC: 1:237580409 G / A
• gnomAD v2: 1-237580409-G-A
• gnomAD v4: 1-237417109-G-A
• MyVariant Identifiers: chr1:g.237580409G>A (hg19) ; chr1:g.237417109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417109G>A , CM000663.2:g.237417109G>A	GRCh38
NC_000001.10:g.237580409G>A , CM000663.1:g.237580409G>A	GRCh37
NC_000001.9:g.235647032G>A	NCBI36
NG_008799.2:g.379708G>A
NG_008799.3:g.379926G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.834G>A	ENSP00000499659.2:p.Glu278=
ENST00000659194.3:c.834G>A	ENSP00000499653.3:p.Glu278=
ENST00000660292.2:c.834G>A	ENSP00000499787.2:p.Glu278=
ENST00000366574.7:c.834G>A MANE Select	ENSP00000355533.2:p.Glu278=
ENST00000360064.7:c.786G>A	ENSP00000353174.7:p.Glu262=
ENST00000366574.6:c.834G>A	ENSP00000355533.2:p.Glu278=
NM_001035.2:c.834G>A	NP_001026.2:p.Glu278=
XM_006711802.2:c.834G>A	XP_006711865.1:p.Glu278=
XM_006711803.2:c.834G>A	XP_006711866.1:p.Glu278=
XM_006711804.2:c.834G>A	XP_006711867.1:p.Glu278=
XM_006711805.2:c.834G>A	XP_006711868.1:p.Glu278=
XM_006711806.2:c.834G>A	XP_006711869.1:p.Glu278=
XM_006711807.2:c.834G>A	XP_006711870.1:p.Glu278=
XM_006711808.2:c.834G>A	XP_006711871.1:p.Glu278=
XM_006711809.2:c.834G>A	XP_006711872.1:p.Glu278=
XM_006711810.2:c.834G>A	XP_006711873.1:p.Glu278=
XR_949152.1:n.1115G>A
XM_006711802.3:c.834G>A	XP_006711865.1:p.Glu278=
XM_006711803.3:c.834G>A	XP_006711866.1:p.Glu278=
XM_006711804.3:c.834G>A	XP_006711867.1:p.Glu278=
XM_006711805.3:c.834G>A	XP_006711868.1:p.Glu278=
XM_006711806.3:c.834G>A	XP_006711869.1:p.Glu278=
XM_006711807.3:c.834G>A	XP_006711870.1:p.Glu278=
XM_006711808.3:c.834G>A	XP_006711871.1:p.Glu278=
XM_006711810.3:c.834G>A	XP_006711873.1:p.Glu278=
XM_017002028.1:c.813G>A	XP_016857517.1:p.Glu271=
XR_002957299.1:n.1148G>A
XR_949152.2:n.1148G>A
NM_001035.3:c.834G>A MANE Select	NP_001026.2:p.Glu278=