Canonical Allele Identifier: CA2487391244

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237566377_237566379delinsCAG , CM000663.2:g.237566377_237566379delinsCAG	GRCh38
NC_000001.10:g.237729677_237729679delinsCAG , CM000663.1:g.237729677_237729679delinsCAG	GRCh37
NC_000001.9:g.235796300_235796302delinsCAG	NCBI36
NG_008799.2:g.528976_528978delinsCAG
NG_008799.3:g.529194_529196delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.3215-190_3215-188delinsCAG	ENSP00000499659.2:n.3215-190_3215-188delinsCAG
ENST00000659194.3:c.3215-190_3215-188delinsCAG	ENSP00000499653.3:n.3215-190_3215-188delinsCAG
ENST00000660292.2:c.3215-190_3215-188delinsCAG	ENSP00000499787.2:n.3215-190_3215-188delinsCAG
ENST00000366574.7:c.3215-190_3215-188delinsCAG MANE Select	ENSP00000355533.2:n.3215-190_3215-188delinsCAG
ENST00000360064.7:c.3167-190_3167-188delinsCAG	ENSP00000353174.7:n.3167-190_3167-188delinsCAG
ENST00000366574.6:c.3215-190_3215-188delinsCAG	ENSP00000355533.2:n.3215-190_3215-188delinsCAG
NM_001035.2:c.3215-190_3215-188delinsCAG	NP_001026.2:n.3215-190_3215-188delinsCAG
XM_006711802.2:c.3215-190_3215-188delinsCAG	XP_006711865.1:n.3215-190_3215-188delinsCAG
XM_006711803.2:c.3215-193_3215-191delinsCAG	XP_006711866.1:n.3215-193_3215-191delinsCAG
XM_006711804.2:c.3215-190_3215-188delinsCAG	XP_006711867.1:n.3215-190_3215-188delinsCAG
XM_006711805.2:c.3215-190_3215-188delinsCAG	XP_006711868.1:n.3215-190_3215-188delinsCAG
XM_006711806.2:c.3215-190_3215-188delinsCAG	XP_006711869.1:n.3215-190_3215-188delinsCAG
XM_006711807.2:c.3215-190_3215-188delinsCAG	XP_006711870.1:n.3215-190_3215-188delinsCAG
XM_006711808.2:c.3215-190_3215-188delinsCAG	XP_006711871.1:n.3215-190_3215-188delinsCAG
XM_006711809.2:c.3215-190_3215-188delinsCAG	XP_006711872.1:n.3215-190_3215-188delinsCAG
XM_006711810.2:c.3215-193_3215-191delinsCAG	XP_006711873.1:n.3215-193_3215-191delinsCAG
XR_949152.1:n.3496-190_3496-188delinsCAG
XM_006711802.3:c.3215-190_3215-188delinsCAG	XP_006711865.1:n.3215-190_3215-188delinsCAG
XM_006711803.3:c.3215-193_3215-191delinsCAG	XP_006711866.1:n.3215-193_3215-191delinsCAG
XM_006711804.3:c.3215-190_3215-188delinsCAG	XP_006711867.1:n.3215-190_3215-188delinsCAG
XM_006711805.3:c.3215-190_3215-188delinsCAG	XP_006711868.1:n.3215-190_3215-188delinsCAG
XM_006711806.3:c.3215-190_3215-188delinsCAG	XP_006711869.1:n.3215-190_3215-188delinsCAG
XM_006711807.3:c.3215-190_3215-188delinsCAG	XP_006711870.1:n.3215-190_3215-188delinsCAG
XM_006711808.3:c.3215-190_3215-188delinsCAG	XP_006711871.1:n.3215-190_3215-188delinsCAG
XM_006711810.3:c.3215-193_3215-191delinsCAG	XP_006711873.1:n.3215-193_3215-191delinsCAG
XM_017002028.1:c.3194-190_3194-188delinsCAG	XP_016857517.1:n.3194-190_3194-188delinsCAG
XR_002957299.1:n.3529-190_3529-188delinsCAG
XR_949152.2:n.3529-190_3529-188delinsCAG
NM_001035.3:c.3215-190_3215-188delinsCAG MANE Select	NP_001026.2:n.3215-190_3215-188delinsCAG