Canonical Allele Identifier: CA423821906

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2003914
• ClinVar RCV Id: RCV002828123
• dbSNP Id: rs1334976066
• gnomAD v2: 1-237791288-C-A
• gnomAD v4: 1-237627988-C-A
• MyVariant Identifiers: chr1:g.237791288C>A (hg19) ; chr1:g.237627988C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627988C>A , CM000663.2:g.237627988C>A	GRCh38
NC_000001.10:g.237791288C>A , CM000663.1:g.237791288C>A	GRCh37
NC_000001.9:g.235857911C>A	NCBI36
NG_008799.2:g.590587C>A
NG_008799.3:g.590805C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.6348C>A	ENSP00000499659.2:p.Thr2116=
ENST00000659194.3:c.6348C>A	ENSP00000499653.3:p.Thr2116=
ENST00000660292.2:c.6348C>A	ENSP00000499787.2:p.Thr2116=
ENST00000366574.7:c.6348C>A MANE Select	ENSP00000355533.2:p.Thr2116=
ENST00000360064.7:c.6300C>A	ENSP00000353174.7:p.Thr2100=
ENST00000366574.6:c.6348C>A	ENSP00000355533.2:p.Thr2116=
NM_001035.2:c.6348C>A	NP_001026.2:p.Thr2116=
XM_006711802.2:c.6378C>A	XP_006711865.1:p.Thr2126=
XM_006711803.2:c.6375C>A	XP_006711866.1:p.Thr2125=
XM_006711804.2:c.6378C>A	XP_006711867.1:p.Thr2126=
XM_006711805.2:c.6348C>A	XP_006711868.1:p.Thr2116=
XM_006711806.2:c.6378C>A	XP_006711869.1:p.Thr2126=
XM_006711807.2:c.6378C>A	XP_006711870.1:p.Thr2126=
XM_006711808.2:c.6378C>A	XP_006711871.1:p.Thr2126=
XM_006711809.2:c.6378C>A	XP_006711872.1:p.Thr2126=
XM_006711810.2:c.6345C>A	XP_006711873.1:p.Thr2115=
XR_949152.1:n.6659C>A
XM_006711802.3:c.6378C>A	XP_006711865.1:p.Thr2126=
XM_006711803.3:c.6375C>A	XP_006711866.1:p.Thr2125=
XM_006711804.3:c.6378C>A	XP_006711867.1:p.Thr2126=
XM_006711805.3:c.6348C>A	XP_006711868.1:p.Thr2116=
XM_006711806.3:c.6378C>A	XP_006711869.1:p.Thr2126=
XM_006711807.3:c.6378C>A	XP_006711870.1:p.Thr2126=
XM_006711808.3:c.6378C>A	XP_006711871.1:p.Thr2126=
XM_006711810.3:c.6345C>A	XP_006711873.1:p.Thr2115=
XM_017002028.1:c.6357C>A	XP_016857517.1:p.Thr2119=
XR_002957299.1:n.6692C>A
XR_949152.2:n.6692C>A
NM_001035.3:c.6348C>A MANE Select	NP_001026.2:p.Thr2116=