Canonical Allele Identifier: CA259677

Gene: RYR2

Linked Data

• ClinVar Variation Id: 29879
• ClinVar RCV Id: RCV000022760
• MyVariant Identifiers: chr1:g.237493979_237495101del (hg19) ; chr1:g.237330679_237331801del (hg38)
• PubMed: PMID:17875969 ; PMID:19926015

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237330680_237331802del , CM000663.2:g.237330680_237331802del	GRCh38
NC_000001.10:g.237493980_237495102del , CM000663.1:g.237493980_237495102del	GRCh37
NC_000001.9:g.235560603_235561725del	NCBI36
NG_008799.2:g.293279_294401del
NG_008799.3:g.293497_294619del

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.169-198_273+820del
ENST00000659194.3:c.169-198_273+820del
ENST00000660292.2:c.169-198_273+820del
ENST00000366574.7:c.169-198_273+820del
ENST00000360064.7:c.121-198_225+820del
ENST00000366574.6:c.169-198_273+820del
NM_001035.2:c.169-198_273+820del
XM_006711802.2:c.169-198_273+820del
XM_006711803.2:c.169-198_273+820del
XM_006711804.2:c.169-198_273+820del
XM_006711805.2:c.169-198_273+820del
XM_006711806.2:c.169-198_273+820del
XM_006711807.2:c.169-198_273+820del
XM_006711808.2:c.169-198_273+820del
XM_006711809.2:c.169-198_273+820del
XM_006711810.2:c.169-198_273+820del
XR_949152.1:n.450-198_554+820del
XM_006711802.3:c.169-198_273+820del
XM_006711803.3:c.169-198_273+820del
XM_006711804.3:c.169-198_273+820del
XM_006711805.3:c.169-198_273+820del
XM_006711806.3:c.169-198_273+820del
XM_006711807.3:c.169-198_273+820del
XM_006711808.3:c.169-198_273+820del
XM_006711810.3:c.169-198_273+820del
XM_017002028.1:c.169-198_273+820del
XR_002957299.1:n.483-198_587+820del
XR_949152.2:n.483-198_587+820del
NM_001035.3:c.169-198_273+820del