Canonical Allele Identifier: CA733285891

Gene: RYR2

Linked Data

• dbSNP Id: rs5781955
• gnomAD v3: 1-237416759-C-CAGAGAGAGAGAGAGAGAGAG
• gnomAD v4: 1-237416759-C-CAGAGAGAGAGAGAGAGAGAG
• MyVariant Identifiers: chr1:g.237580059_237580060insAGAGAGAGAGAGAGAGAGAG (hg19) ; chr1:g.237416759_237416760insAGAGAGAGAGAGAGAGAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237416760_237416761insGAGAGAGAGAGAGAGAGAGA , CM000663.2:g.237416760_237416761insGAGAGAGAGAGAGAGAGAGA	GRCh38
NC_000001.10:g.237580060_237580061insGAGAGAGAGAGAGAGAGAGA , CM000663.1:g.237580060_237580061insGAGAGAGAGAGAGAGAGAGA	GRCh37
NC_000001.9:g.235646683_235646684insGAGAGAGAGAGAGAGAGAGA	NCBI36
NG_008799.2:g.379359_379360insGAGAGAGAGAGAGAGAGAGA
NG_008799.3:g.379577_379578insGAGAGAGAGAGAGAGAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	ENSP00000499659.2:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
ENST00000659194.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	ENSP00000499653.3:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
ENST00000660292.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	ENSP00000499787.2:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
ENST00000366574.7:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA MANE Select	ENSP00000355533.2:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
ENST00000360064.7:c.726-289_726-288insGAGAGAGAGAGAGAGAGAGA	ENSP00000353174.7:n.726-289_726-288insGAGAGAGAGAGAGAGAGAGA
ENST00000366574.6:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	ENSP00000355533.2:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
NM_001035.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	NP_001026.2:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711802.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711865.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711803.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711866.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711804.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711867.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711805.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711868.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711806.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711869.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711807.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711870.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711808.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711871.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711809.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711872.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711810.2:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711873.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XR_949152.1:n.1055-289_1055-288insGAGAGAGAGAGAGAGAGAGA
XM_006711802.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711865.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711803.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711866.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711804.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711867.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711805.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711868.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711806.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711869.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711807.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711870.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711808.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711871.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_006711810.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA	XP_006711873.1:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA
XM_017002028.1:c.753-289_753-288insGAGAGAGAGAGAGAGAGAGA	XP_016857517.1:n.753-289_753-288insGAGAGAGAGAGAGAGAGAGA
XR_002957299.1:n.1088-289_1088-288insGAGAGAGAGAGAGAGAGAGA
XR_949152.2:n.1088-289_1088-288insGAGAGAGAGAGAGAGAGAGA
NM_001035.3:c.774-289_774-288insGAGAGAGAGAGAGAGAGAGA MANE Select	NP_001026.2:n.774-289_774-288insGAGAGAGAGAGAGAGAGAGA