Canonical Allele Identifier: CA2487443759

Gene: RYR2

Linked Data

• dbSNP Id: rs1686680918

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237688849_237688851dup , CM000663.2:g.237688849_237688851dup	GRCh38
NC_000001.10:g.237852149_237852151dup , CM000663.1:g.237852149_237852151dup	GRCh37
NC_000001.9:g.235918772_235918774dup	NCBI36
NG_008799.2:g.651448_651450dup
NG_008799.3:g.651666_651668dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*102+8272_*102+8274dup	ENSP00000499659.2:n.*102+8272_*102+8274dup
ENST00000659194.3:c.9067+1345_9067+1347dup	ENSP00000499653.3:n.9067+1345_9067+1347dup
ENST00000660292.2:c.9067+1345_9067+1347dup	ENSP00000499787.2:n.9067+1345_9067+1347dup
ENST00000659194.2:c.1256+1345_1256+1347dup
ENST00000366574.7:c.9067+1345_9067+1347dup MANE Select	ENSP00000355533.2:n.9067+1345_9067+1347dup
ENST00000659194.1:c.1256+1345_1256+1347dup
ENST00000360064.7:c.9019+1345_9019+1347dup	ENSP00000353174.7:n.9019+1345_9019+1347dup
ENST00000366574.6:c.9067+1345_9067+1347dup	ENSP00000355533.2:n.9067+1345_9067+1347dup
ENST00000609119.1:n.205+8272_205+8274dup
NM_001035.2:c.9067+1345_9067+1347dup	NP_001026.2:n.9067+1345_9067+1347dup
XM_006711802.2:c.9097+1345_9097+1347dup	XP_006711865.1:n.9097+1345_9097+1347dup
XM_006711803.2:c.9094+1345_9094+1347dup	XP_006711866.1:n.9094+1345_9094+1347dup
XM_006711804.2:c.9097+1345_9097+1347dup	XP_006711867.1:n.9097+1345_9097+1347dup
XM_006711805.2:c.9067+1345_9067+1347dup	XP_006711868.1:n.9067+1345_9067+1347dup
XM_006711806.2:c.9097+1345_9097+1347dup	XP_006711869.1:n.9097+1345_9097+1347dup
XM_006711807.2:c.9097+1345_9097+1347dup	XP_006711870.1:n.9097+1345_9097+1347dup
XM_006711808.2:c.8861-10116_8861-10114dup	XP_006711871.1:n.8861-10116_8861-10114dup
XM_006711810.2:c.9064+1345_9064+1347dup	XP_006711873.1:n.9064+1345_9064+1347dup
XR_949152.1:n.9328+8272_9328+8274dup
XM_006711802.3:c.9097+1345_9097+1347dup	XP_006711865.1:n.9097+1345_9097+1347dup
XM_006711803.3:c.9094+1345_9094+1347dup	XP_006711866.1:n.9094+1345_9094+1347dup
XM_006711804.3:c.9097+1345_9097+1347dup	XP_006711867.1:n.9097+1345_9097+1347dup
XM_006711805.3:c.9067+1345_9067+1347dup	XP_006711868.1:n.9067+1345_9067+1347dup
XM_006711806.3:c.9097+1345_9097+1347dup	XP_006711869.1:n.9097+1345_9097+1347dup
XM_006711807.3:c.9097+1345_9097+1347dup	XP_006711870.1:n.9097+1345_9097+1347dup
XM_006711808.3:c.8861-10116_8861-10114dup	XP_006711871.1:n.8861-10116_8861-10114dup
XM_006711810.3:c.9064+1345_9064+1347dup	XP_006711873.1:n.9064+1345_9064+1347dup
XM_017002028.1:c.9076+1345_9076+1347dup	XP_016857517.1:n.9076+1345_9076+1347dup
XR_949152.2:n.9361+8272_9361+8274dup
NM_001035.3:c.9067+1345_9067+1347dup MANE Select	NP_001026.2:n.9067+1345_9067+1347dup