Canonical Allele Identifier: CA16042325
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372588
ClinVar RCV Id: RCV000414217
dbSNP Id: rs1057517873
MyVariant Identifiers: chr1:g.237995892A>G (hg19) chr1:g.237832592A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237832592A>G , CM000663.2:g.237832592A>G GRCh38
NC_000001.10:g.237995892A>G , CM000663.1:g.237995892A>G GRCh37
NC_000001.9:g.236062515A>G NCBI36
NG_008799.2:g.795191A>G
NG_008799.3:g.795409A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*5941A>G ENSP00000499659.2:n.*5941A>G
ENST00000659194.3:c.14831A>G ENSP00000499653.3:p.Glu4944Gly
ENST00000660292.2:c.14870A>G ENSP00000499787.2:p.Glu4957Gly
ENST00000659194.2:c.7020A>G
ENST00000366574.7:c.14849A>G MANE Select ENSP00000355533.2:p.Glu4950Gly
ENST00000360064.7:c.14798A>G ENSP00000353174.7:p.Glu4933Gly
ENST00000366574.6:c.14849A>G ENSP00000355533.2:p.Glu4950Gly
ENST00000462585.1:n.692A>G
ENST00000608590.5:n.1259A>G
NM_001035.2:c.14849A>G NP_001026.2:p.Glu4950Gly
XM_006711802.2:c.14903A>G XP_006711865.1:p.Glu4968Gly
XM_006711803.2:c.14900A>G XP_006711866.1:p.Glu4967Gly
XM_006711804.2:c.14879A>G XP_006711867.1:p.Glu4960Gly
XM_006711805.2:c.14873A>G XP_006711868.1:p.Glu4958Gly
XM_006711806.2:c.14867A>G XP_006711869.1:p.Glu4956Gly
XM_006711807.2:c.14843A>G XP_006711870.1:p.Glu4948Gly
XM_006711808.2:c.14666A>G XP_006711871.1:p.Glu4889Gly
XM_006711810.2:c.14810A>G XP_006711873.1:p.Glu4937Gly
XM_006711802.3:c.14903A>G XP_006711865.1:p.Glu4968Gly
XM_006711803.3:c.14900A>G XP_006711866.1:p.Glu4967Gly
XM_006711804.3:c.14879A>G XP_006711867.1:p.Glu4960Gly
XM_006711805.3:c.14873A>G XP_006711868.1:p.Glu4958Gly
XM_006711806.3:c.14867A>G XP_006711869.1:p.Glu4956Gly
XM_006711807.3:c.14843A>G XP_006711870.1:p.Glu4948Gly
XM_006711808.3:c.14666A>G XP_006711871.1:p.Glu4889Gly
XM_006711810.3:c.14810A>G XP_006711873.1:p.Glu4937Gly
XM_017002028.1:c.14882A>G XP_016857517.1:p.Glu4961Gly
NM_001035.3:c.14849A>G MANE Select NP_001026.2:p.Glu4950Gly
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