Canonical Allele Identifier: CA345413507

Gene: RYR2

Linked Data

• ClinVar Variation Id: 925790
• ClinVar RCV Id: RCV001187956
• dbSNP Id: rs1695363889
• MyVariant Identifiers: chr1:g.237947522A>T (hg19) ; chr1:g.237784222A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784222A>T , CM000663.2:g.237784222A>T	GRCh38
NC_000001.10:g.237947522A>T , CM000663.1:g.237947522A>T	GRCh37
NC_000001.9:g.236014145A>T	NCBI36
NG_008799.2:g.746821A>T
NG_008799.3:g.747039A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3602A>T	ENSP00000499659.2:n.*3602A>T
ENST00000659194.3:c.12498A>T	ENSP00000499653.3:p.Arg4166Ser
ENST00000660292.2:c.12531A>T	ENSP00000499787.2:p.Arg4177Ser
ENST00000659194.2:c.4687A>T
ENST00000366574.7:c.12510A>T MANE Select	ENSP00000355533.2:p.Arg4170Ser
ENST00000659194.1:c.4687A>T
ENST00000660292.1:c.2563A>T
ENST00000360064.7:c.12462A>T	ENSP00000353174.7:p.Arg4154Ser
ENST00000366574.6:c.12510A>T	ENSP00000355533.2:p.Arg4170Ser
ENST00000609119.1:n.3705A>T
NM_001035.2:c.12510A>T	NP_001026.2:p.Arg4170Ser
XM_006711802.2:c.12564A>T	XP_006711865.1:p.Arg4188Ser
XM_006711803.2:c.12561A>T	XP_006711866.1:p.Arg4187Ser
XM_006711804.2:c.12540A>T	XP_006711867.1:p.Arg4180Ser
XM_006711805.2:c.12534A>T	XP_006711868.1:p.Arg4178Ser
XM_006711806.2:c.12528A>T	XP_006711869.1:p.Arg4176Ser
XM_006711807.2:c.12504A>T	XP_006711870.1:p.Arg4168Ser
XM_006711808.2:c.12327A>T	XP_006711871.1:p.Arg4109Ser
XM_006711810.2:c.12471A>T	XP_006711873.1:p.Arg4157Ser
XM_006711802.3:c.12564A>T	XP_006711865.1:p.Arg4188Ser
XM_006711803.3:c.12561A>T	XP_006711866.1:p.Arg4187Ser
XM_006711804.3:c.12540A>T	XP_006711867.1:p.Arg4180Ser
XM_006711805.3:c.12534A>T	XP_006711868.1:p.Arg4178Ser
XM_006711806.3:c.12528A>T	XP_006711869.1:p.Arg4176Ser
XM_006711807.3:c.12504A>T	XP_006711870.1:p.Arg4168Ser
XM_006711808.3:c.12327A>T	XP_006711871.1:p.Arg4109Ser
XM_006711810.3:c.12471A>T	XP_006711873.1:p.Arg4157Ser
XM_017002028.1:c.12543A>T	XP_016857517.1:p.Arg4181Ser
NM_001035.3:c.12510A>T MANE Select	NP_001026.2:p.Arg4170Ser