Canonical Allele Identifier: CA007785

Gene: RYR2

Linked Data

• ClinVar Variation Id: 12959
• ClinVar RCV Id: RCV000151756 ; RCV000190229 ; RCV000780694 ; RCV003151727
• dbSNP Id: rs121918602
• MyVariant Identifiers: chr1:g.237617696T>C (hg19) ; chr1:g.237454396T>C (hg38)
• PubMed: PMID:11159936 ; PMID:15364606 ; PMID:15364613 ; PMID:16239587 ; PMID:22221940 ; PMID:22374134 ; PMID:22828895 ; PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237454396T>C , CM000663.2:g.237454396T>C	GRCh38
NC_000001.10:g.237617696T>C , CM000663.1:g.237617696T>C	GRCh37
NC_000001.9:g.235684319T>C	NCBI36
NG_008799.2:g.416995T>C
NG_008799.3:g.417213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.1298T>C	ENSP00000499659.2:p.Leu433Pro
ENST00000659194.3:c.1298T>C	ENSP00000499653.3:p.Leu433Pro
ENST00000660292.2:c.1298T>C	ENSP00000499787.2:p.Leu433Pro
ENST00000366574.7:c.1298T>C MANE Select	ENSP00000355533.2:p.Leu433Pro
ENST00000360064.7:c.1250T>C	ENSP00000353174.7:p.Leu417Pro
ENST00000366574.6:c.1298T>C	ENSP00000355533.2:p.Leu433Pro
NM_001035.2:c.1298T>C	NP_001026.2:p.Leu433Pro
XM_006711802.2:c.1298T>C	XP_006711865.1:p.Leu433Pro
XM_006711803.2:c.1298T>C	XP_006711866.1:p.Leu433Pro
XM_006711804.2:c.1298T>C	XP_006711867.1:p.Leu433Pro
XM_006711805.2:c.1298T>C	XP_006711868.1:p.Leu433Pro
XM_006711806.2:c.1298T>C	XP_006711869.1:p.Leu433Pro
XM_006711807.2:c.1298T>C	XP_006711870.1:p.Leu433Pro
XM_006711808.2:c.1298T>C	XP_006711871.1:p.Leu433Pro
XM_006711809.2:c.1298T>C	XP_006711872.1:p.Leu433Pro
XM_006711810.2:c.1298T>C	XP_006711873.1:p.Leu433Pro
XR_949152.1:n.1579T>C
XM_006711802.3:c.1298T>C	XP_006711865.1:p.Leu433Pro
XM_006711803.3:c.1298T>C	XP_006711866.1:p.Leu433Pro
XM_006711804.3:c.1298T>C	XP_006711867.1:p.Leu433Pro
XM_006711805.3:c.1298T>C	XP_006711868.1:p.Leu433Pro
XM_006711806.3:c.1298T>C	XP_006711869.1:p.Leu433Pro
XM_006711807.3:c.1298T>C	XP_006711870.1:p.Leu433Pro
XM_006711808.3:c.1298T>C	XP_006711871.1:p.Leu433Pro
XM_006711810.3:c.1298T>C	XP_006711873.1:p.Leu433Pro
XM_017002028.1:c.1277T>C	XP_016857517.1:p.Leu426Pro
XR_002957299.1:n.1612T>C
XR_949152.2:n.1612T>C
NM_001035.3:c.1298T>C MANE Select	NP_001026.2:p.Leu433Pro