Canonical Allele Identifier: CA085650

Gene: RYR2

Linked Data

• ClinVar Variation Id: 925599
• ClinVar RCV Id: RCV001187631 ; RCV002393431 ; RCV002559987 ; RCV003490103 ; RCV004008721 ; RCV003992459
• dbSNP Id: rs750780758
• ExAC: 1:237972271 G / A
• gnomAD v2: 1-237972271-G-A
• gnomAD v3: 1-237808971-G-A
• gnomAD v4: 1-237808971-G-A
• COSMIC: COSM210507 ; COSM3485883
• MyVariant Identifiers: chr1:g.237972271G>A (hg19) ; chr1:g.237808971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808971G>A , CM000663.2:g.237808971G>A	GRCh38
NC_000001.10:g.237972271G>A , CM000663.1:g.237972271G>A	GRCh37
NC_000001.9:g.236038894G>A	NCBI36
NG_008799.2:g.771570G>A
NG_008799.3:g.771788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5461G>A	ENSP00000499659.2:n.*5461G>A
ENST00000659194.3:c.14351G>A	ENSP00000499653.3:p.Arg4784Gln
ENST00000660292.2:c.14390G>A	ENSP00000499787.2:p.Arg4797Gln
ENST00000659194.2:c.6540G>A
ENST00000366574.7:c.14369G>A MANE Select	ENSP00000355533.2:p.Arg4790Gln
ENST00000360064.7:c.14318G>A	ENSP00000353174.7:p.Arg4773Gln
ENST00000366574.6:c.14369G>A	ENSP00000355533.2:p.Arg4790Gln
ENST00000608590.5:n.880G>A
NM_001035.2:c.14369G>A	NP_001026.2:p.Arg4790Gln
XM_006711802.2:c.14423G>A	XP_006711865.1:p.Arg4808Gln
XM_006711803.2:c.14420G>A	XP_006711866.1:p.Arg4807Gln
XM_006711804.2:c.14399G>A	XP_006711867.1:p.Arg4800Gln
XM_006711805.2:c.14393G>A	XP_006711868.1:p.Arg4798Gln
XM_006711806.2:c.14387G>A	XP_006711869.1:p.Arg4796Gln
XM_006711807.2:c.14363G>A	XP_006711870.1:p.Arg4788Gln
XM_006711808.2:c.14186G>A	XP_006711871.1:p.Arg4729Gln
XM_006711810.2:c.14330G>A	XP_006711873.1:p.Arg4777Gln
XM_006711802.3:c.14423G>A	XP_006711865.1:p.Arg4808Gln
XM_006711803.3:c.14420G>A	XP_006711866.1:p.Arg4807Gln
XM_006711804.3:c.14399G>A	XP_006711867.1:p.Arg4800Gln
XM_006711805.3:c.14393G>A	XP_006711868.1:p.Arg4798Gln
XM_006711806.3:c.14387G>A	XP_006711869.1:p.Arg4796Gln
XM_006711807.3:c.14363G>A	XP_006711870.1:p.Arg4788Gln
XM_006711808.3:c.14186G>A	XP_006711871.1:p.Arg4729Gln
XM_006711810.3:c.14330G>A	XP_006711873.1:p.Arg4777Gln
XM_017002028.1:c.14402G>A	XP_016857517.1:p.Arg4801Gln
NM_001035.3:c.14369G>A MANE Select	NP_001026.2:p.Arg4790Gln