Canonical Allele Identifier: CA087087

Gene: RYR2

Linked Data

• ClinVar Variation Id: 998474
• ClinVar RCV Id: RCV002538435 ; RCV003532927
• dbSNP Id: rs767569006
• ExAC: 1:237791235 G / A
• gnomAD v2: 1-237791235-G-A
• gnomAD v4: 1-237627935-G-A
• MyVariant Identifiers: chr1:g.237791235G>A (hg19) ; chr1:g.237627935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627935G>A , CM000663.2:g.237627935G>A	GRCh38
NC_000001.10:g.237791235G>A , CM000663.1:g.237791235G>A	GRCh37
NC_000001.9:g.235857858G>A	NCBI36
NG_008799.2:g.590534G>A
NG_008799.3:g.590752G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6295G>A	ENSP00000499659.2:p.Val2099Ile
ENST00000659194.3:c.6295G>A	ENSP00000499653.3:p.Val2099Ile
ENST00000660292.2:c.6295G>A	ENSP00000499787.2:p.Val2099Ile
ENST00000366574.7:c.6295G>A MANE Select	ENSP00000355533.2:p.Val2099Ile
ENST00000360064.7:c.6247G>A	ENSP00000353174.7:p.Val2083Ile
ENST00000366574.6:c.6295G>A	ENSP00000355533.2:p.Val2099Ile
NM_001035.2:c.6295G>A	NP_001026.2:p.Val2099Ile
XM_006711802.2:c.6325G>A	XP_006711865.1:p.Val2109Ile
XM_006711803.2:c.6322G>A	XP_006711866.1:p.Val2108Ile
XM_006711804.2:c.6325G>A	XP_006711867.1:p.Val2109Ile
XM_006711805.2:c.6295G>A	XP_006711868.1:p.Val2099Ile
XM_006711806.2:c.6325G>A	XP_006711869.1:p.Val2109Ile
XM_006711807.2:c.6325G>A	XP_006711870.1:p.Val2109Ile
XM_006711808.2:c.6325G>A	XP_006711871.1:p.Val2109Ile
XM_006711809.2:c.6325G>A	XP_006711872.1:p.Val2109Ile
XM_006711810.2:c.6292G>A	XP_006711873.1:p.Val2098Ile
XR_949152.1:n.6606G>A
XM_006711802.3:c.6325G>A	XP_006711865.1:p.Val2109Ile
XM_006711803.3:c.6322G>A	XP_006711866.1:p.Val2108Ile
XM_006711804.3:c.6325G>A	XP_006711867.1:p.Val2109Ile
XM_006711805.3:c.6295G>A	XP_006711868.1:p.Val2099Ile
XM_006711806.3:c.6325G>A	XP_006711869.1:p.Val2109Ile
XM_006711807.3:c.6325G>A	XP_006711870.1:p.Val2109Ile
XM_006711808.3:c.6325G>A	XP_006711871.1:p.Val2109Ile
XM_006711810.3:c.6292G>A	XP_006711873.1:p.Val2098Ile
XM_017002028.1:c.6304G>A	XP_016857517.1:p.Val2102Ile
XR_002957299.1:n.6639G>A
XR_949152.2:n.6639G>A
NM_001035.3:c.6295G>A MANE Select	NP_001026.2:p.Val2099Ile