Canonical Allele Identifier: CA345413693

Gene: RYR2

Linked Data

• ClinVar Variation Id: 665174
• ClinVar RCV Id: RCV002535983
• dbSNP Id: rs765238394
• MyVariant Identifiers: chr1:g.237947601A>C (hg19) ; chr1:g.237784301A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784301A>C , CM000663.2:g.237784301A>C	GRCh38
NC_000001.10:g.237947601A>C , CM000663.1:g.237947601A>C	GRCh37
NC_000001.9:g.236014224A>C	NCBI36
NG_008799.2:g.746900A>C
NG_008799.3:g.747118A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3681A>C	ENSP00000499659.2:n.*3681A>C
ENST00000659194.3:c.12577A>C	ENSP00000499653.3:p.Ile4193Leu
ENST00000660292.2:c.12610A>C	ENSP00000499787.2:p.Ile4204Leu
ENST00000659194.2:c.4766A>C
ENST00000366574.7:c.12589A>C MANE Select	ENSP00000355533.2:p.Ile4197Leu
ENST00000659194.1:c.4766A>C
ENST00000660292.1:c.2642A>C
ENST00000360064.7:c.12541A>C	ENSP00000353174.7:p.Ile4181Leu
ENST00000366574.6:c.12589A>C	ENSP00000355533.2:p.Ile4197Leu
ENST00000609119.1:n.3784A>C
NM_001035.2:c.12589A>C	NP_001026.2:p.Ile4197Leu
XM_006711802.2:c.12643A>C	XP_006711865.1:p.Ile4215Leu
XM_006711803.2:c.12640A>C	XP_006711866.1:p.Ile4214Leu
XM_006711804.2:c.12619A>C	XP_006711867.1:p.Ile4207Leu
XM_006711805.2:c.12613A>C	XP_006711868.1:p.Ile4205Leu
XM_006711806.2:c.12607A>C	XP_006711869.1:p.Ile4203Leu
XM_006711807.2:c.12583A>C	XP_006711870.1:p.Ile4195Leu
XM_006711808.2:c.12406A>C	XP_006711871.1:p.Ile4136Leu
XM_006711810.2:c.12550A>C	XP_006711873.1:p.Ile4184Leu
XM_006711802.3:c.12643A>C	XP_006711865.1:p.Ile4215Leu
XM_006711803.3:c.12640A>C	XP_006711866.1:p.Ile4214Leu
XM_006711804.3:c.12619A>C	XP_006711867.1:p.Ile4207Leu
XM_006711805.3:c.12613A>C	XP_006711868.1:p.Ile4205Leu
XM_006711806.3:c.12607A>C	XP_006711869.1:p.Ile4203Leu
XM_006711807.3:c.12583A>C	XP_006711870.1:p.Ile4195Leu
XM_006711808.3:c.12406A>C	XP_006711871.1:p.Ile4136Leu
XM_006711810.3:c.12550A>C	XP_006711873.1:p.Ile4184Leu
XM_017002028.1:c.12622A>C	XP_016857517.1:p.Ile4208Leu
NM_001035.3:c.12589A>C MANE Select	NP_001026.2:p.Ile4197Leu