Canonical Allele Identifier: CA913187564

Gene: RYR2

Linked Data

• ClinVar Variation Id: 701854
• ClinVar RCV Id: RCV002282392 ; RCV002539083 ; RCV001192148
• dbSNP Id: rs1572045142

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237377314_237377315delinsCC , CM000663.2:g.237377314_237377315delinsCC	GRCh38
NC_000001.10:g.237540614_237540615delinsCC , CM000663.1:g.237540614_237540615delinsCC	GRCh37
NC_000001.9:g.235607237_235607238delinsCC	NCBI36
NG_008799.2:g.339913_339914delinsCC
NG_008799.3:g.340131_340132delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.464-9_464-8delinsCC	ENSP00000499659.2:n.464-9_464-8delinsCC
ENST00000659194.3:c.464-9_464-8delinsCC	ENSP00000499653.3:n.464-9_464-8delinsCC
ENST00000660292.2:c.464-9_464-8delinsCC	ENSP00000499787.2:n.464-9_464-8delinsCC
ENST00000366574.7:c.464-9_464-8delinsCC MANE Select	ENSP00000355533.2:n.464-9_464-8delinsCC
ENST00000360064.7:c.416-9_416-8delinsCC	ENSP00000353174.7:n.416-9_416-8delinsCC
ENST00000366574.6:c.464-9_464-8delinsCC	ENSP00000355533.2:n.464-9_464-8delinsCC
NM_001035.2:c.464-9_464-8delinsCC	NP_001026.2:n.464-9_464-8delinsCC
XM_006711802.2:c.464-9_464-8delinsCC	XP_006711865.1:n.464-9_464-8delinsCC
XM_006711803.2:c.464-9_464-8delinsCC	XP_006711866.1:n.464-9_464-8delinsCC
XM_006711804.2:c.464-9_464-8delinsCC	XP_006711867.1:n.464-9_464-8delinsCC
XM_006711805.2:c.464-9_464-8delinsCC	XP_006711868.1:n.464-9_464-8delinsCC
XM_006711806.2:c.464-9_464-8delinsCC	XP_006711869.1:n.464-9_464-8delinsCC
XM_006711807.2:c.464-9_464-8delinsCC	XP_006711870.1:n.464-9_464-8delinsCC
XM_006711808.2:c.464-9_464-8delinsCC	XP_006711871.1:n.464-9_464-8delinsCC
XM_006711809.2:c.464-9_464-8delinsCC	XP_006711872.1:n.464-9_464-8delinsCC
XM_006711810.2:c.464-9_464-8delinsCC	XP_006711873.1:n.464-9_464-8delinsCC
XR_949152.1:n.745-9_745-8delinsCC
XM_006711802.3:c.464-9_464-8delinsCC	XP_006711865.1:n.464-9_464-8delinsCC
XM_006711803.3:c.464-9_464-8delinsCC	XP_006711866.1:n.464-9_464-8delinsCC
XM_006711804.3:c.464-9_464-8delinsCC	XP_006711867.1:n.464-9_464-8delinsCC
XM_006711805.3:c.464-9_464-8delinsCC	XP_006711868.1:n.464-9_464-8delinsCC
XM_006711806.3:c.464-9_464-8delinsCC	XP_006711869.1:n.464-9_464-8delinsCC
XM_006711807.3:c.464-9_464-8delinsCC	XP_006711870.1:n.464-9_464-8delinsCC
XM_006711808.3:c.464-9_464-8delinsCC	XP_006711871.1:n.464-9_464-8delinsCC
XM_006711810.3:c.464-9_464-8delinsCC	XP_006711873.1:n.464-9_464-8delinsCC
XM_017002028.1:c.443-9_443-8delinsCC	XP_016857517.1:n.443-9_443-8delinsCC
XR_002957299.1:n.778-9_778-8delinsCC
XR_949152.2:n.778-9_778-8delinsCC
NM_001035.3:c.464-9_464-8delinsCC MANE Select	NP_001026.2:n.464-9_464-8delinsCC