Canonical Allele Identifier: CA658795629

Gene: RYR2

Linked Data

• ClinVar Variation Id: 519358
• ClinVar RCV Id: RCV000618745
• dbSNP Id: rs1553426652
• MyVariant Identifiers: chr1:g.237540644_237540648dup (hg19) ; chr1:g.237377344_237377348dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237377344_237377348dup , CM000663.2:g.237377344_237377348dup	GRCh38
NC_000001.10:g.237540644_237540648dup , CM000663.1:g.237540644_237540648dup	GRCh37
NC_000001.9:g.235607267_235607271dup	NCBI36
NG_008799.2:g.339943_339947dup
NG_008799.3:g.340161_340165dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.485_489dup	ENSP00000499659.2:p.Pro164TyrfsTer22
ENST00000659194.3:c.485_489dup	ENSP00000499653.3:p.Pro164TyrfsTer22
ENST00000660292.2:c.485_489dup	ENSP00000499787.2:p.Pro164TyrfsTer22
ENST00000366574.7:c.485_489dup MANE Select	ENSP00000355533.2:p.Pro164TyrfsTer22
ENST00000360064.7:c.437_441dup	ENSP00000353174.7:p.Pro148TyrfsTer22
ENST00000366574.6:c.485_489dup	ENSP00000355533.2:p.Pro164TyrfsTer22
NM_001035.2:c.485_489dup	NP_001026.2:p.Pro164TyrfsTer22
XM_006711802.2:c.485_489dup	XP_006711865.1:p.Pro164TyrfsTer22
XM_006711803.2:c.485_489dup	XP_006711866.1:p.Pro164TyrfsTer22
XM_006711804.2:c.485_489dup	XP_006711867.1:p.Pro164TyrfsTer22
XM_006711805.2:c.485_489dup	XP_006711868.1:p.Pro164TyrfsTer22
XM_006711806.2:c.485_489dup	XP_006711869.1:p.Pro164TyrfsTer22
XM_006711807.2:c.485_489dup	XP_006711870.1:p.Pro164TyrfsTer22
XM_006711808.2:c.485_489dup	XP_006711871.1:p.Pro164TyrfsTer22
XM_006711809.2:c.485_489dup	XP_006711872.1:p.Pro164TyrfsTer22
XM_006711810.2:c.485_489dup	XP_006711873.1:p.Pro164TyrfsTer22
XR_949152.1:n.766_770dup
XM_006711802.3:c.485_489dup	XP_006711865.1:p.Pro164TyrfsTer22
XM_006711803.3:c.485_489dup	XP_006711866.1:p.Pro164TyrfsTer22
XM_006711804.3:c.485_489dup	XP_006711867.1:p.Pro164TyrfsTer22
XM_006711805.3:c.485_489dup	XP_006711868.1:p.Pro164TyrfsTer22
XM_006711806.3:c.485_489dup	XP_006711869.1:p.Pro164TyrfsTer22
XM_006711807.3:c.485_489dup	XP_006711870.1:p.Pro164TyrfsTer22
XM_006711808.3:c.485_489dup	XP_006711871.1:p.Pro164TyrfsTer22
XM_006711810.3:c.485_489dup	XP_006711873.1:p.Pro164TyrfsTer22
XM_017002028.1:c.464_468dup	XP_016857517.1:p.Pro157TyrfsTer22
XR_002957299.1:n.799_803dup
XR_949152.2:n.799_803dup
NM_001035.3:c.485_489dup MANE Select	NP_001026.2:p.Pro164TyrfsTer22