Canonical Allele Identifier: CA345410954
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069434
ClinVar RCV Id: RCV004007978
dbSNP Id: rs1490741313

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237627915A>G , CM000663.2:g.237627915A>G GRCh38
NC_000001.10:g.237791215A>G , CM000663.1:g.237791215A>G GRCh37
NC_000001.9:g.235857838A>G NCBI36
NG_008799.2:g.590514A>G
NG_008799.3:g.590732A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.6275A>G ENSP00000499659.2:p.Tyr2092Cys
ENST00000659194.3:c.6275A>G ENSP00000499653.3:p.Tyr2092Cys
ENST00000660292.2:c.6275A>G ENSP00000499787.2:p.Tyr2092Cys
ENST00000366574.7:c.6275A>G MANE Select ENSP00000355533.2:p.Tyr2092Cys
ENST00000360064.7:c.6227A>G ENSP00000353174.7:p.Tyr2076Cys
ENST00000366574.6:c.6275A>G ENSP00000355533.2:p.Tyr2092Cys
NM_001035.2:c.6275A>G NP_001026.2:p.Tyr2092Cys
XM_006711802.2:c.6305A>G XP_006711865.1:p.Tyr2102Cys
XM_006711803.2:c.6302A>G XP_006711866.1:p.Tyr2101Cys
XM_006711804.2:c.6305A>G XP_006711867.1:p.Tyr2102Cys
XM_006711805.2:c.6275A>G XP_006711868.1:p.Tyr2092Cys
XM_006711806.2:c.6305A>G XP_006711869.1:p.Tyr2102Cys
XM_006711807.2:c.6305A>G XP_006711870.1:p.Tyr2102Cys
XM_006711808.2:c.6305A>G XP_006711871.1:p.Tyr2102Cys
XM_006711809.2:c.6305A>G XP_006711872.1:p.Tyr2102Cys
XM_006711810.2:c.6272A>G XP_006711873.1:p.Tyr2091Cys
XR_949152.1:n.6586A>G
XM_006711802.3:c.6305A>G XP_006711865.1:p.Tyr2102Cys
XM_006711803.3:c.6302A>G XP_006711866.1:p.Tyr2101Cys
XM_006711804.3:c.6305A>G XP_006711867.1:p.Tyr2102Cys
XM_006711805.3:c.6275A>G XP_006711868.1:p.Tyr2092Cys
XM_006711806.3:c.6305A>G XP_006711869.1:p.Tyr2102Cys
XM_006711807.3:c.6305A>G XP_006711870.1:p.Tyr2102Cys
XM_006711808.3:c.6305A>G XP_006711871.1:p.Tyr2102Cys
XM_006711810.3:c.6272A>G XP_006711873.1:p.Tyr2091Cys
XM_017002028.1:c.6284A>G XP_016857517.1:p.Tyr2095Cys
XR_002957299.1:n.6619A>G
XR_949152.2:n.6619A>G
NM_001035.3:c.6275A>G MANE Select NP_001026.2:p.Tyr2092Cys