Canonical Allele Identifier: CA010384

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201387
• ClinVar RCV Id: RCV001781540 ; RCV002516910
• dbSNP Id: rs794728746
• MyVariant Identifiers: chr1:g.237801780G>A (hg19) ; chr1:g.237638480G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237638480G>A , CM000663.2:g.237638480G>A	GRCh38
NC_000001.10:g.237801780G>A , CM000663.1:g.237801780G>A	GRCh37
NC_000001.9:g.235868403G>A	NCBI36
NG_008799.2:g.601079G>A
NG_008799.3:g.601297G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.6916G>A	ENSP00000499659.2:p.Val2306Ile
ENST00000659194.3:c.6916G>A	ENSP00000499653.3:p.Val2306Ile
ENST00000660292.2:c.6916G>A	ENSP00000499787.2:p.Val2306Ile
ENST00000366574.7:c.6916G>A MANE Select	ENSP00000355533.2:p.Val2306Ile
ENST00000360064.7:c.6868G>A	ENSP00000353174.7:p.Val2290Ile
ENST00000366574.6:c.6916G>A	ENSP00000355533.2:p.Val2306Ile
NM_001035.2:c.6916G>A	NP_001026.2:p.Val2306Ile
XM_006711802.2:c.6946G>A	XP_006711865.1:p.Val2316Ile
XM_006711803.2:c.6943G>A	XP_006711866.1:p.Val2315Ile
XM_006711804.2:c.6946G>A	XP_006711867.1:p.Val2316Ile
XM_006711805.2:c.6916G>A	XP_006711868.1:p.Val2306Ile
XM_006711806.2:c.6946G>A	XP_006711869.1:p.Val2316Ile
XM_006711807.2:c.6946G>A	XP_006711870.1:p.Val2316Ile
XM_006711808.2:c.6946G>A	XP_006711871.1:p.Val2316Ile
XM_006711809.2:c.6946G>A	XP_006711872.1:p.Val2316Ile
XM_006711810.2:c.6913G>A	XP_006711873.1:p.Val2305Ile
XR_949152.1:n.7227G>A
XM_006711802.3:c.6946G>A	XP_006711865.1:p.Val2316Ile
XM_006711803.3:c.6943G>A	XP_006711866.1:p.Val2315Ile
XM_006711804.3:c.6946G>A	XP_006711867.1:p.Val2316Ile
XM_006711805.3:c.6916G>A	XP_006711868.1:p.Val2306Ile
XM_006711806.3:c.6946G>A	XP_006711869.1:p.Val2316Ile
XM_006711807.3:c.6946G>A	XP_006711870.1:p.Val2316Ile
XM_006711808.3:c.6946G>A	XP_006711871.1:p.Val2316Ile
XM_006711810.3:c.6913G>A	XP_006711873.1:p.Val2305Ile
XM_017002028.1:c.6925G>A	XP_016857517.1:p.Val2309Ile
XR_002957299.1:n.7260G>A
XR_949152.2:n.7260G>A
NM_001035.3:c.6916G>A MANE Select	NP_001026.2:p.Val2306Ile