Canonical Allele Identifier: CA087097

Gene: RYR2

Linked Data

• dbSNP Id: rs756121980
• ExAC: 1:237791319 C / G
• gnomAD v2: 1-237791319-C-G
• gnomAD v4: 1-237628019-C-G
• MyVariant Identifiers: chr1:g.237791319C>G (hg19) ; chr1:g.237628019C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237628019C>G , CM000663.2:g.237628019C>G	GRCh38
NC_000001.10:g.237791319C>G , CM000663.1:g.237791319C>G	GRCh37
NC_000001.9:g.235857942C>G	NCBI36
NG_008799.2:g.590618C>G
NG_008799.3:g.590836C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6379C>G	ENSP00000499659.2:p.Arg2127Gly
ENST00000659194.3:c.6379C>G	ENSP00000499653.3:p.Arg2127Gly
ENST00000660292.2:c.6379C>G	ENSP00000499787.2:p.Arg2127Gly
ENST00000366574.7:c.6379C>G MANE Select	ENSP00000355533.2:p.Arg2127Gly
ENST00000360064.7:c.6331C>G	ENSP00000353174.7:p.Arg2111Gly
ENST00000366574.6:c.6379C>G	ENSP00000355533.2:p.Arg2127Gly
NM_001035.2:c.6379C>G	NP_001026.2:p.Arg2127Gly
XM_006711802.2:c.6409C>G	XP_006711865.1:p.Arg2137Gly
XM_006711803.2:c.6406C>G	XP_006711866.1:p.Arg2136Gly
XM_006711804.2:c.6409C>G	XP_006711867.1:p.Arg2137Gly
XM_006711805.2:c.6379C>G	XP_006711868.1:p.Arg2127Gly
XM_006711806.2:c.6409C>G	XP_006711869.1:p.Arg2137Gly
XM_006711807.2:c.6409C>G	XP_006711870.1:p.Arg2137Gly
XM_006711808.2:c.6409C>G	XP_006711871.1:p.Arg2137Gly
XM_006711809.2:c.6409C>G	XP_006711872.1:p.Arg2137Gly
XM_006711810.2:c.6376C>G	XP_006711873.1:p.Arg2126Gly
XR_949152.1:n.6690C>G
XM_006711802.3:c.6409C>G	XP_006711865.1:p.Arg2137Gly
XM_006711803.3:c.6406C>G	XP_006711866.1:p.Arg2136Gly
XM_006711804.3:c.6409C>G	XP_006711867.1:p.Arg2137Gly
XM_006711805.3:c.6379C>G	XP_006711868.1:p.Arg2127Gly
XM_006711806.3:c.6409C>G	XP_006711869.1:p.Arg2137Gly
XM_006711807.3:c.6409C>G	XP_006711870.1:p.Arg2137Gly
XM_006711808.3:c.6409C>G	XP_006711871.1:p.Arg2137Gly
XM_006711810.3:c.6376C>G	XP_006711873.1:p.Arg2126Gly
XM_017002028.1:c.6388C>G	XP_016857517.1:p.Arg2130Gly
XR_002957299.1:n.6723C>G
XR_949152.2:n.6723C>G
NM_001035.3:c.6379C>G MANE Select	NP_001026.2:p.Arg2127Gly