Canonical Allele Identifier: CA008410
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201362
ClinVar RCV Id: RCV000182851
dbSNP Id: rs794728809
MyVariant Identifiers: chr1:g.237994861G>C (hg19) chr1:g.237831561G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237831561G>C , CM000663.2:g.237831561G>C GRCh38
NC_000001.10:g.237994861G>C , CM000663.1:g.237994861G>C GRCh37
NC_000001.9:g.236061484G>C NCBI36
NG_008799.2:g.794160G>C
NG_008799.3:g.794378G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*5896G>C ENSP00000499659.2:n.*5896G>C
ENST00000659194.3:c.14786G>C ENSP00000499653.3:p.Gly4929Ala
ENST00000660292.2:c.14825G>C ENSP00000499787.2:p.Gly4942Ala
ENST00000659194.2:c.6975G>C
ENST00000366574.7:c.14804G>C MANE Select ENSP00000355533.2:p.Gly4935Ala
ENST00000360064.7:c.14753G>C ENSP00000353174.7:p.Gly4918Ala
ENST00000366574.6:c.14804G>C ENSP00000355533.2:p.Gly4935Ala
ENST00000462585.1:n.647G>C
ENST00000608590.5:n.1214G>C
NM_001035.2:c.14804G>C NP_001026.2:p.Gly4935Ala
XM_006711802.2:c.14858G>C XP_006711865.1:p.Gly4953Ala
XM_006711803.2:c.14855G>C XP_006711866.1:p.Gly4952Ala
XM_006711804.2:c.14834G>C XP_006711867.1:p.Gly4945Ala
XM_006711805.2:c.14828G>C XP_006711868.1:p.Gly4943Ala
XM_006711806.2:c.14822G>C XP_006711869.1:p.Gly4941Ala
XM_006711807.2:c.14798G>C XP_006711870.1:p.Gly4933Ala
XM_006711808.2:c.14621G>C XP_006711871.1:p.Gly4874Ala
XM_006711810.2:c.14765G>C XP_006711873.1:p.Gly4922Ala
XM_006711802.3:c.14858G>C XP_006711865.1:p.Gly4953Ala
XM_006711803.3:c.14855G>C XP_006711866.1:p.Gly4952Ala
XM_006711804.3:c.14834G>C XP_006711867.1:p.Gly4945Ala
XM_006711805.3:c.14828G>C XP_006711868.1:p.Gly4943Ala
XM_006711806.3:c.14822G>C XP_006711869.1:p.Gly4941Ala
XM_006711807.3:c.14798G>C XP_006711870.1:p.Gly4933Ala
XM_006711808.3:c.14621G>C XP_006711871.1:p.Gly4874Ala
XM_006711810.3:c.14765G>C XP_006711873.1:p.Gly4922Ala
XM_017002028.1:c.14837G>C XP_016857517.1:p.Gly4946Ala
NM_001035.3:c.14804G>C MANE Select NP_001026.2:p.Gly4935Ala
Search 100 bp 5'
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