Canonical Allele Identifier: CA008433
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201363
ClinVar RCV Id: RCV000182852
dbSNP Id: rs794728810
MyVariant Identifiers: chr1:g.237995888T>C (hg19) chr1:g.237832588T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237832588T>C , CM000663.2:g.237832588T>C GRCh38
NC_000001.10:g.237995888T>C , CM000663.1:g.237995888T>C GRCh37
NC_000001.9:g.236062511T>C NCBI36
NG_008799.2:g.795187T>C
NG_008799.3:g.795405T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*5937T>C ENSP00000499659.2:n.*5937T>C
ENST00000659194.3:c.14827T>C ENSP00000499653.3:p.Trp4943Arg
ENST00000660292.2:c.14866T>C ENSP00000499787.2:p.Trp4956Arg
ENST00000659194.2:c.7016T>C
ENST00000366574.7:c.14845T>C MANE Select ENSP00000355533.2:p.Trp4949Arg
ENST00000360064.7:c.14794T>C ENSP00000353174.7:p.Trp4932Arg
ENST00000366574.6:c.14845T>C ENSP00000355533.2:p.Trp4949Arg
ENST00000462585.1:n.688T>C
ENST00000608590.5:n.1255T>C
NM_001035.2:c.14845T>C NP_001026.2:p.Trp4949Arg
XM_006711802.2:c.14899T>C XP_006711865.1:p.Trp4967Arg
XM_006711803.2:c.14896T>C XP_006711866.1:p.Trp4966Arg
XM_006711804.2:c.14875T>C XP_006711867.1:p.Trp4959Arg
XM_006711805.2:c.14869T>C XP_006711868.1:p.Trp4957Arg
XM_006711806.2:c.14863T>C XP_006711869.1:p.Trp4955Arg
XM_006711807.2:c.14839T>C XP_006711870.1:p.Trp4947Arg
XM_006711808.2:c.14662T>C XP_006711871.1:p.Trp4888Arg
XM_006711810.2:c.14806T>C XP_006711873.1:p.Trp4936Arg
XM_006711802.3:c.14899T>C XP_006711865.1:p.Trp4967Arg
XM_006711803.3:c.14896T>C XP_006711866.1:p.Trp4966Arg
XM_006711804.3:c.14875T>C XP_006711867.1:p.Trp4959Arg
XM_006711805.3:c.14869T>C XP_006711868.1:p.Trp4957Arg
XM_006711806.3:c.14863T>C XP_006711869.1:p.Trp4955Arg
XM_006711807.3:c.14839T>C XP_006711870.1:p.Trp4947Arg
XM_006711808.3:c.14662T>C XP_006711871.1:p.Trp4888Arg
XM_006711810.3:c.14806T>C XP_006711873.1:p.Trp4936Arg
XM_017002028.1:c.14878T>C XP_016857517.1:p.Trp4960Arg
NM_001035.3:c.14845T>C MANE Select NP_001026.2:p.Trp4949Arg
Search 100 bp 5'
Search 100 bp 3'