Canonical Allele Identifier: CA1013745677

Gene: RYR2

Linked Data

• gnomAD v3: 1-237688841-G-GGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT
• gnomAD v4: 1-237688841-G-GGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237688841_237688842insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT , CM000663.2:g.237688841_237688842insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	GRCh38
NC_000001.10:g.237852141_237852142insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT , CM000663.1:g.237852141_237852142insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	GRCh37
NC_000001.9:g.235918764_235918765insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	NCBI36
NG_008799.2:g.651440_651441insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT
NG_008799.3:g.651658_651659insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*102+8264_*102+8265insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	ENSP00000499659.2:n.*102+8264_*102+8265insGTGCTATTTCTAACTTCCT...
ENST00000659194.3:c.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	ENSP00000499653.3:n.9067+1337_9067+1338insGTGCTATTTCTAACTTCCT...
ENST00000660292.2:c.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	ENSP00000499787.2:n.9067+1337_9067+1338insGTGCTATTTCTAACTTCCT...
ENST00000659194.2:c.1256+1337_1256+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT
ENST00000366574.7:c.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT MANE Select	ENSP00000355533.2:n.9067+1337_9067+1338insGTGCTATTTCTAACTTCCT...
ENST00000659194.1:c.1256+1337_1256+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT
ENST00000360064.7:c.9019+1337_9019+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	ENSP00000353174.7:n.9019+1337_9019+1338insGTGCTATTTCTAACTTCCT...
ENST00000366574.6:c.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	ENSP00000355533.2:n.9067+1337_9067+1338insGTGCTATTTCTAACTTCCT...
ENST00000609119.1:n.205+8264_205+8265insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT
NM_001035.2:c.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	NP_001026.2:n.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATAT...
XM_006711802.2:c.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711865.1:n.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711803.2:c.9094+1337_9094+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711866.1:n.9094+1337_9094+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711804.2:c.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711867.1:n.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711805.2:c.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711868.1:n.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711806.2:c.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711869.1:n.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711807.2:c.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711870.1:n.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711808.2:c.8861-10124_8861-10123insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711871.1:n.8861-10124_8861-10123insGTGCTATTTCTAACTTCCTG...
XM_006711810.2:c.9064+1337_9064+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711873.1:n.9064+1337_9064+1338insGTGCTATTTCTAACTTCCTGGA...
XR_949152.1:n.9328+8264_9328+8265insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT
XM_006711802.3:c.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711865.1:n.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711803.3:c.9094+1337_9094+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711866.1:n.9094+1337_9094+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711804.3:c.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711867.1:n.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711805.3:c.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711868.1:n.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711806.3:c.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711869.1:n.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711807.3:c.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711870.1:n.9097+1337_9097+1338insGTGCTATTTCTAACTTCCTGGA...
XM_006711808.3:c.8861-10124_8861-10123insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711871.1:n.8861-10124_8861-10123insGTGCTATTTCTAACTTCCTG...
XM_006711810.3:c.9064+1337_9064+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_006711873.1:n.9064+1337_9064+1338insGTGCTATTTCTAACTTCCTGGA...
XM_017002028.1:c.9076+1337_9076+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT	XP_016857517.1:n.9076+1337_9076+1338insGTGCTATTTCTAACTTCCTGGA...
XR_949152.2:n.9361+8264_9361+8265insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT
NM_001035.3:c.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATATACAATAAGCAGGAAGTTAGAAATAGCACCATAGAAAGTATGAT MANE Select	NP_001026.2:n.9067+1337_9067+1338insGTGCTATTTCTAACTTCCTGGATAT...