Canonical Allele Identifier: CA345403668
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2053293
dbSNP Id: rs1444337902

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237678089C>A , CM000663.2:g.237678089C>A GRCh38
NC_000001.10:g.237841389C>A , CM000663.1:g.237841389C>A GRCh37
NC_000001.9:g.235908012C>A NCBI36
NG_008799.2:g.640688C>A
NG_008799.3:g.640906C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.8831-2367C>A ENSP00000499659.2:n.8831-2367C>A
ENST00000659194.3:c.8872C>A ENSP00000499653.3:p.Gln2958Lys
ENST00000660292.2:c.8872C>A ENSP00000499787.2:p.Gln2958Lys
ENST00000659194.2:c.1061C>A
ENST00000366574.7:c.8872C>A MANE Select ENSP00000355533.2:p.Gln2958Lys
ENST00000659194.1:c.1061C>A
ENST00000360064.7:c.8824C>A ENSP00000353174.7:p.Gln2942Lys
ENST00000366574.6:c.8872C>A ENSP00000355533.2:p.Gln2958Lys
ENST00000609119.1:n.84-2367C>A
NM_001035.2:c.8872C>A NP_001026.2:p.Gln2958Lys
XM_006711802.2:c.8902C>A XP_006711865.1:p.Gln2968Lys
XM_006711803.2:c.8899C>A XP_006711866.1:p.Gln2967Lys
XM_006711804.2:c.8902C>A XP_006711867.1:p.Gln2968Lys
XM_006711805.2:c.8872C>A XP_006711868.1:p.Gln2958Lys
XM_006711806.2:c.8902C>A XP_006711869.1:p.Gln2968Lys
XM_006711807.2:c.8902C>A XP_006711870.1:p.Gln2968Lys
XM_006711808.2:c.8860+3243C>A XP_006711871.1:n.8860+3243C>A
XM_006711810.2:c.8869C>A XP_006711873.1:p.Gln2957Lys
XR_949152.1:n.9183C>A
XM_006711802.3:c.8902C>A XP_006711865.1:p.Gln2968Lys
XM_006711803.3:c.8899C>A XP_006711866.1:p.Gln2967Lys
XM_006711804.3:c.8902C>A XP_006711867.1:p.Gln2968Lys
XM_006711805.3:c.8872C>A XP_006711868.1:p.Gln2958Lys
XM_006711806.3:c.8902C>A XP_006711869.1:p.Gln2968Lys
XM_006711807.3:c.8902C>A XP_006711870.1:p.Gln2968Lys
XM_006711808.3:c.8860+3243C>A XP_006711871.1:n.8860+3243C>A
XM_006711810.3:c.8869C>A XP_006711873.1:p.Gln2957Lys
XM_017002028.1:c.8881C>A XP_016857517.1:p.Gln2961Lys
XR_949152.2:n.9216C>A
NM_001035.3:c.8872C>A MANE Select NP_001026.2:p.Gln2958Lys