Canonical Allele Identifier: CA345375406

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1284298
• ClinVar RCV Id: RCV001701224
• dbSNP Id: rs2149792694
• gnomAD v4: 1-237377332-G-A
• MyVariant Identifiers: chr1:g.237540632G>A (hg19) ; chr1:g.237377332G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237377332G>A , CM000663.2:g.237377332G>A	GRCh38
NC_000001.10:g.237540632G>A , CM000663.1:g.237540632G>A	GRCh37
NC_000001.9:g.235607255G>A	NCBI36
NG_008799.2:g.339931G>A
NG_008799.3:g.340149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.473G>A	ENSP00000499659.2:p.Cys158Tyr
ENST00000659194.3:c.473G>A	ENSP00000499653.3:p.Cys158Tyr
ENST00000660292.2:c.473G>A	ENSP00000499787.2:p.Cys158Tyr
ENST00000366574.7:c.473G>A MANE Select	ENSP00000355533.2:p.Cys158Tyr
ENST00000360064.7:c.425G>A	ENSP00000353174.7:p.Cys142Tyr
ENST00000366574.6:c.473G>A	ENSP00000355533.2:p.Cys158Tyr
NM_001035.2:c.473G>A	NP_001026.2:p.Cys158Tyr
XM_006711802.2:c.473G>A	XP_006711865.1:p.Cys158Tyr
XM_006711803.2:c.473G>A	XP_006711866.1:p.Cys158Tyr
XM_006711804.2:c.473G>A	XP_006711867.1:p.Cys158Tyr
XM_006711805.2:c.473G>A	XP_006711868.1:p.Cys158Tyr
XM_006711806.2:c.473G>A	XP_006711869.1:p.Cys158Tyr
XM_006711807.2:c.473G>A	XP_006711870.1:p.Cys158Tyr
XM_006711808.2:c.473G>A	XP_006711871.1:p.Cys158Tyr
XM_006711809.2:c.473G>A	XP_006711872.1:p.Cys158Tyr
XM_006711810.2:c.473G>A	XP_006711873.1:p.Cys158Tyr
XR_949152.1:n.754G>A
XM_006711802.3:c.473G>A	XP_006711865.1:p.Cys158Tyr
XM_006711803.3:c.473G>A	XP_006711866.1:p.Cys158Tyr
XM_006711804.3:c.473G>A	XP_006711867.1:p.Cys158Tyr
XM_006711805.3:c.473G>A	XP_006711868.1:p.Cys158Tyr
XM_006711806.3:c.473G>A	XP_006711869.1:p.Cys158Tyr
XM_006711807.3:c.473G>A	XP_006711870.1:p.Cys158Tyr
XM_006711808.3:c.473G>A	XP_006711871.1:p.Cys158Tyr
XM_006711810.3:c.473G>A	XP_006711873.1:p.Cys158Tyr
XM_017002028.1:c.452G>A	XP_016857517.1:p.Cys151Tyr
XR_002957299.1:n.787G>A
XR_949152.2:n.787G>A
NM_001035.3:c.473G>A MANE Select	NP_001026.2:p.Cys158Tyr