Canonical Allele Identifier: CA007630

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201215
• ClinVar RCV Id: RCV000182681 ; RCV000190228 ; RCV000617576 ; RCV002288789
• dbSNP Id: rs794728721
• gnomAD v4: 1-237445489-G-A
• COSMIC: COSM4029896 ; COSM4029897
• MyVariant Identifiers: chr1:g.237608789G>A (hg19) ; chr1:g.237445489G>A (hg38)
• PubMed: PMID:19926015 ; PMID:21616285 ; PMID:23094885 ; PMID:23871484 ; PMID:24025405 ; PMID:25554238 ; PMID:26114861 ; PMID:26132555 ; PMID:26153920 ; PMID:27452199 ; PMID:28422759

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237445489G>A , CM000663.2:g.237445489G>A	GRCh38
NC_000001.10:g.237608789G>A , CM000663.1:g.237608789G>A	GRCh37
NC_000001.9:g.235675412G>A	NCBI36
NG_008799.2:g.408088G>A
NG_008799.3:g.408306G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.1259G>A	ENSP00000499659.2:p.Arg420Gln
ENST00000659194.3:c.1259G>A	ENSP00000499653.3:p.Arg420Gln
ENST00000660292.2:c.1259G>A	ENSP00000499787.2:p.Arg420Gln
ENST00000366574.7:c.1259G>A MANE Select	ENSP00000355533.2:p.Arg420Gln
ENST00000360064.7:c.1211G>A	ENSP00000353174.7:p.Arg404Gln
ENST00000366574.6:c.1259G>A	ENSP00000355533.2:p.Arg420Gln
NM_001035.2:c.1259G>A	NP_001026.2:p.Arg420Gln
XM_006711802.2:c.1259G>A	XP_006711865.1:p.Arg420Gln
XM_006711803.2:c.1259G>A	XP_006711866.1:p.Arg420Gln
XM_006711804.2:c.1259G>A	XP_006711867.1:p.Arg420Gln
XM_006711805.2:c.1259G>A	XP_006711868.1:p.Arg420Gln
XM_006711806.2:c.1259G>A	XP_006711869.1:p.Arg420Gln
XM_006711807.2:c.1259G>A	XP_006711870.1:p.Arg420Gln
XM_006711808.2:c.1259G>A	XP_006711871.1:p.Arg420Gln
XM_006711809.2:c.1259G>A	XP_006711872.1:p.Arg420Gln
XM_006711810.2:c.1259G>A	XP_006711873.1:p.Arg420Gln
XR_949152.1:n.1540G>A
XM_006711802.3:c.1259G>A	XP_006711865.1:p.Arg420Gln
XM_006711803.3:c.1259G>A	XP_006711866.1:p.Arg420Gln
XM_006711804.3:c.1259G>A	XP_006711867.1:p.Arg420Gln
XM_006711805.3:c.1259G>A	XP_006711868.1:p.Arg420Gln
XM_006711806.3:c.1259G>A	XP_006711869.1:p.Arg420Gln
XM_006711807.3:c.1259G>A	XP_006711870.1:p.Arg420Gln
XM_006711808.3:c.1259G>A	XP_006711871.1:p.Arg420Gln
XM_006711810.3:c.1259G>A	XP_006711873.1:p.Arg420Gln
XM_017002028.1:c.1238G>A	XP_016857517.1:p.Arg413Gln
XR_002957299.1:n.1573G>A
XR_949152.2:n.1573G>A
NM_001035.3:c.1259G>A MANE Select	NP_001026.2:p.Arg420Gln