Canonical Allele Identifier: CA2580611241

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2039264
• ClinVar RCV Id: RCV002899759

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237566552_237566553del , CM000663.2:g.237566552_237566553del	GRCh38
NC_000001.10:g.237729852_237729853del , CM000663.1:g.237729852_237729853del	GRCh37
NC_000001.9:g.235796475_235796476del	NCBI36
NG_008799.2:g.529151_529152del
NG_008799.3:g.529369_529370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.3215-15_3215-14del	ENSP00000499659.2:n.3215-15_3215-14del
ENST00000659194.3:c.3215-15_3215-14del	ENSP00000499653.3:n.3215-15_3215-14del
ENST00000660292.2:c.3215-15_3215-14del	ENSP00000499787.2:n.3215-15_3215-14del
ENST00000366574.7:c.3215-15_3215-14del MANE Select	ENSP00000355533.2:n.3215-15_3215-14del
ENST00000360064.7:c.3167-15_3167-14del	ENSP00000353174.7:n.3167-15_3167-14del
ENST00000366574.6:c.3215-15_3215-14del	ENSP00000355533.2:n.3215-15_3215-14del
NM_001035.2:c.3215-15_3215-14del	NP_001026.2:n.3215-15_3215-14del
XM_006711802.2:c.3215-15_3215-14del	XP_006711865.1:n.3215-15_3215-14del
XM_006711803.2:c.3215-18_3215-17del	XP_006711866.1:n.3215-18_3215-17del
XM_006711804.2:c.3215-15_3215-14del	XP_006711867.1:n.3215-15_3215-14del
XM_006711805.2:c.3215-15_3215-14del	XP_006711868.1:n.3215-15_3215-14del
XM_006711806.2:c.3215-15_3215-14del	XP_006711869.1:n.3215-15_3215-14del
XM_006711807.2:c.3215-15_3215-14del	XP_006711870.1:n.3215-15_3215-14del
XM_006711808.2:c.3215-15_3215-14del	XP_006711871.1:n.3215-15_3215-14del
XM_006711809.2:c.3215-15_3215-14del	XP_006711872.1:n.3215-15_3215-14del
XM_006711810.2:c.3215-18_3215-17del	XP_006711873.1:n.3215-18_3215-17del
XR_949152.1:n.3496-15_3496-14del
XM_006711802.3:c.3215-15_3215-14del	XP_006711865.1:n.3215-15_3215-14del
XM_006711803.3:c.3215-18_3215-17del	XP_006711866.1:n.3215-18_3215-17del
XM_006711804.3:c.3215-15_3215-14del	XP_006711867.1:n.3215-15_3215-14del
XM_006711805.3:c.3215-15_3215-14del	XP_006711868.1:n.3215-15_3215-14del
XM_006711806.3:c.3215-15_3215-14del	XP_006711869.1:n.3215-15_3215-14del
XM_006711807.3:c.3215-15_3215-14del	XP_006711870.1:n.3215-15_3215-14del
XM_006711808.3:c.3215-15_3215-14del	XP_006711871.1:n.3215-15_3215-14del
XM_006711810.3:c.3215-18_3215-17del	XP_006711873.1:n.3215-18_3215-17del
XM_017002028.1:c.3194-15_3194-14del	XP_016857517.1:n.3194-15_3194-14del
XR_002957299.1:n.3529-15_3529-14del
XR_949152.2:n.3529-15_3529-14del
NM_001035.3:c.3215-15_3215-14del MANE Select	NP_001026.2:n.3215-15_3215-14del