Canonical Allele Identifier: CA009166

Gene: RYR2

Linked Data

• ClinVar Variation Id: 180493
• ClinVar RCV Id: RCV000157453 ; RCV001179056 ; RCV002444650 ; RCV003886381
• dbSNP Id: rs730880191
• gnomAD v2: 1-237729923-G-A
• gnomAD v3: 1-237566623-G-A
• gnomAD v4: 1-237566623-G-A
• COSMIC: COSM2048578 ; COSM3485713
• MyVariant Identifiers: chr1:g.237729923G>A (hg19) ; chr1:g.237729923_237729926delinsAAGA (hg19) ; chr1:g.237566623G>A (hg38) ; chr1:g.237566623_237566626delinsAAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237566623G>A , CM000663.2:g.237566623G>A	GRCh38
NC_000001.10:g.237729923G>A , CM000663.1:g.237729923G>A	GRCh37
NC_000001.9:g.235796546G>A	NCBI36
NG_008799.2:g.529222G>A
NG_008799.3:g.529440G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.3271G>A	ENSP00000499659.2:p.Glu1091Lys
ENST00000659194.3:c.3271G>A	ENSP00000499653.3:p.Glu1091Lys
ENST00000660292.2:c.3271G>A	ENSP00000499787.2:p.Glu1091Lys
ENST00000366574.7:c.3271G>A MANE Select	ENSP00000355533.2:p.Glu1091Lys
ENST00000360064.7:c.3223G>A	ENSP00000353174.7:p.Glu1075Lys
ENST00000366574.6:c.3271G>A	ENSP00000355533.2:p.Glu1091Lys
NM_001035.2:c.3271G>A	NP_001026.2:p.Glu1091Lys
XM_006711802.2:c.3271G>A	XP_006711865.1:p.Glu1091Lys
XM_006711803.2:c.3268G>A	XP_006711866.1:p.Glu1090Lys
XM_006711804.2:c.3271G>A	XP_006711867.1:p.Glu1091Lys
XM_006711805.2:c.3271G>A	XP_006711868.1:p.Glu1091Lys
XM_006711806.2:c.3271G>A	XP_006711869.1:p.Glu1091Lys
XM_006711807.2:c.3271G>A	XP_006711870.1:p.Glu1091Lys
XM_006711808.2:c.3271G>A	XP_006711871.1:p.Glu1091Lys
XM_006711809.2:c.3271G>A	XP_006711872.1:p.Glu1091Lys
XM_006711810.2:c.3268G>A	XP_006711873.1:p.Glu1090Lys
XR_949152.1:n.3552G>A
XM_006711802.3:c.3271G>A	XP_006711865.1:p.Glu1091Lys
XM_006711803.3:c.3268G>A	XP_006711866.1:p.Glu1090Lys
XM_006711804.3:c.3271G>A	XP_006711867.1:p.Glu1091Lys
XM_006711805.3:c.3271G>A	XP_006711868.1:p.Glu1091Lys
XM_006711806.3:c.3271G>A	XP_006711869.1:p.Glu1091Lys
XM_006711807.3:c.3271G>A	XP_006711870.1:p.Glu1091Lys
XM_006711808.3:c.3271G>A	XP_006711871.1:p.Glu1091Lys
XM_006711810.3:c.3268G>A	XP_006711873.1:p.Glu1090Lys
XM_017002028.1:c.3250G>A	XP_016857517.1:p.Glu1084Lys
XR_002957299.1:n.3585G>A
XR_949152.2:n.3585G>A
NM_001035.3:c.3271G>A MANE Select	NP_001026.2:p.Glu1091Lys