Canonical Allele Identifier: CA345413144

Gene: RYR2

Linked Data

• ClinVar Variation Id: 864622
• ClinVar RCV Id: RCV003103926
• dbSNP Id: rs764202302
• COSMIC: COSM380295
• MyVariant Identifiers: chr1:g.237947416G>T (hg19) ; chr1:g.237784116G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784116G>T , CM000663.2:g.237784116G>T	GRCh38
NC_000001.10:g.237947416G>T , CM000663.1:g.237947416G>T	GRCh37
NC_000001.9:g.236014039G>T	NCBI36
NG_008799.2:g.746715G>T
NG_008799.3:g.746933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3496G>T	ENSP00000499659.2:n.*3496G>T
ENST00000659194.3:c.12392G>T	ENSP00000499653.3:p.Arg4131Leu
ENST00000660292.2:c.12425G>T	ENSP00000499787.2:p.Arg4142Leu
ENST00000659194.2:c.4581G>T
ENST00000366574.7:c.12404G>T MANE Select	ENSP00000355533.2:p.Arg4135Leu
ENST00000659194.1:c.4581G>T
ENST00000660292.1:c.2457G>T
ENST00000360064.7:c.12356G>T	ENSP00000353174.7:p.Arg4119Leu
ENST00000366574.6:c.12404G>T	ENSP00000355533.2:p.Arg4135Leu
ENST00000609119.1:n.3599G>T
NM_001035.2:c.12404G>T	NP_001026.2:p.Arg4135Leu
XM_006711802.2:c.12458G>T	XP_006711865.1:p.Arg4153Leu
XM_006711803.2:c.12455G>T	XP_006711866.1:p.Arg4152Leu
XM_006711804.2:c.12434G>T	XP_006711867.1:p.Arg4145Leu
XM_006711805.2:c.12428G>T	XP_006711868.1:p.Arg4143Leu
XM_006711806.2:c.12422G>T	XP_006711869.1:p.Arg4141Leu
XM_006711807.2:c.12398G>T	XP_006711870.1:p.Arg4133Leu
XM_006711808.2:c.12221G>T	XP_006711871.1:p.Arg4074Leu
XM_006711810.2:c.12365G>T	XP_006711873.1:p.Arg4122Leu
XM_006711802.3:c.12458G>T	XP_006711865.1:p.Arg4153Leu
XM_006711803.3:c.12455G>T	XP_006711866.1:p.Arg4152Leu
XM_006711804.3:c.12434G>T	XP_006711867.1:p.Arg4145Leu
XM_006711805.3:c.12428G>T	XP_006711868.1:p.Arg4143Leu
XM_006711806.3:c.12422G>T	XP_006711869.1:p.Arg4141Leu
XM_006711807.3:c.12398G>T	XP_006711870.1:p.Arg4133Leu
XM_006711808.3:c.12221G>T	XP_006711871.1:p.Arg4074Leu
XM_006711810.3:c.12365G>T	XP_006711873.1:p.Arg4122Leu
XM_017002028.1:c.12437G>T	XP_016857517.1:p.Arg4146Leu
NM_001035.3:c.12404G>T MANE Select	NP_001026.2:p.Arg4135Leu