Canonical Allele Identifier: CA087308

Gene: RYR2

Linked Data

• dbSNP Id: rs752713737
• ExAC: 1:237804204 G / A
• gnomAD v2: 1-237804204-G-A
• gnomAD v4: 1-237640904-G-A
• MyVariant Identifiers: chr1:g.237804204G>A (hg19) ; chr1:g.237640904G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237640904G>A , CM000663.2:g.237640904G>A	GRCh38
NC_000001.10:g.237804204G>A , CM000663.1:g.237804204G>A	GRCh37
NC_000001.9:g.235870827G>A	NCBI36
NG_008799.2:g.603503G>A
NG_008799.3:g.603721G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7123G>A	ENSP00000499659.2:p.Glu2375Lys
ENST00000659194.3:c.7123G>A	ENSP00000499653.3:p.Glu2375Lys
ENST00000660292.2:c.7123G>A	ENSP00000499787.2:p.Glu2375Lys
ENST00000366574.7:c.7123G>A MANE Select	ENSP00000355533.2:p.Glu2375Lys
ENST00000360064.7:c.7075G>A	ENSP00000353174.7:p.Glu2359Lys
ENST00000366574.6:c.7123G>A	ENSP00000355533.2:p.Glu2375Lys
NM_001035.2:c.7123G>A	NP_001026.2:p.Glu2375Lys
XM_006711802.2:c.7153G>A	XP_006711865.1:p.Glu2385Lys
XM_006711803.2:c.7150G>A	XP_006711866.1:p.Glu2384Lys
XM_006711804.2:c.7153G>A	XP_006711867.1:p.Glu2385Lys
XM_006711805.2:c.7123G>A	XP_006711868.1:p.Glu2375Lys
XM_006711806.2:c.7153G>A	XP_006711869.1:p.Glu2385Lys
XM_006711807.2:c.7153G>A	XP_006711870.1:p.Glu2385Lys
XM_006711808.2:c.7153G>A	XP_006711871.1:p.Glu2385Lys
XM_006711809.2:c.7153G>A	XP_006711872.1:p.Glu2385Lys
XM_006711810.2:c.7120G>A	XP_006711873.1:p.Glu2374Lys
XR_949152.1:n.7434G>A
XM_006711802.3:c.7153G>A	XP_006711865.1:p.Glu2385Lys
XM_006711803.3:c.7150G>A	XP_006711866.1:p.Glu2384Lys
XM_006711804.3:c.7153G>A	XP_006711867.1:p.Glu2385Lys
XM_006711805.3:c.7123G>A	XP_006711868.1:p.Glu2375Lys
XM_006711806.3:c.7153G>A	XP_006711869.1:p.Glu2385Lys
XM_006711807.3:c.7153G>A	XP_006711870.1:p.Glu2385Lys
XM_006711808.3:c.7153G>A	XP_006711871.1:p.Glu2385Lys
XM_006711810.3:c.7120G>A	XP_006711873.1:p.Glu2374Lys
XM_017002028.1:c.7132G>A	XP_016857517.1:p.Glu2378Lys
XR_002957299.1:n.7467G>A
XR_949152.2:n.7467G>A
NM_001035.3:c.7123G>A MANE Select	NP_001026.2:p.Glu2375Lys