Canonical Allele Identifier: CA39822643
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1729196
dbSNP Id: rs202176504

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237566582T>G , CM000663.2:g.237566582T>G GRCh38
NC_000001.10:g.237729882T>G , CM000663.1:g.237729882T>G GRCh37
NC_000001.9:g.235796505T>G NCBI36
NG_008799.2:g.529181T>G
NG_008799.3:g.529399T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.3230T>G ENSP00000499659.2:p.Val1077Gly
ENST00000659194.3:c.3230T>G ENSP00000499653.3:p.Val1077Gly
ENST00000660292.2:c.3230T>G ENSP00000499787.2:p.Val1077Gly
ENST00000366574.7:c.3230T>G MANE Select ENSP00000355533.2:p.Val1077Gly
ENST00000360064.7:c.3182T>G ENSP00000353174.7:p.Val1061Gly
ENST00000366574.6:c.3230T>G ENSP00000355533.2:p.Val1077Gly
NM_001035.2:c.3230T>G NP_001026.2:p.Val1077Gly
XM_006711802.2:c.3230T>G XP_006711865.1:p.Val1077Gly
XM_006711803.2:c.3227T>G XP_006711866.1:p.Val1076Gly
XM_006711804.2:c.3230T>G XP_006711867.1:p.Val1077Gly
XM_006711805.2:c.3230T>G XP_006711868.1:p.Val1077Gly
XM_006711806.2:c.3230T>G XP_006711869.1:p.Val1077Gly
XM_006711807.2:c.3230T>G XP_006711870.1:p.Val1077Gly
XM_006711808.2:c.3230T>G XP_006711871.1:p.Val1077Gly
XM_006711809.2:c.3230T>G XP_006711872.1:p.Val1077Gly
XM_006711810.2:c.3227T>G XP_006711873.1:p.Val1076Gly
XR_949152.1:n.3511T>G
XM_006711802.3:c.3230T>G XP_006711865.1:p.Val1077Gly
XM_006711803.3:c.3227T>G XP_006711866.1:p.Val1076Gly
XM_006711804.3:c.3230T>G XP_006711867.1:p.Val1077Gly
XM_006711805.3:c.3230T>G XP_006711868.1:p.Val1077Gly
XM_006711806.3:c.3230T>G XP_006711869.1:p.Val1077Gly
XM_006711807.3:c.3230T>G XP_006711870.1:p.Val1077Gly
XM_006711808.3:c.3230T>G XP_006711871.1:p.Val1077Gly
XM_006711810.3:c.3227T>G XP_006711873.1:p.Val1076Gly
XM_017002028.1:c.3209T>G XP_016857517.1:p.Val1070Gly
XR_002957299.1:n.3544T>G
XR_949152.2:n.3544T>G
NM_001035.3:c.3230T>G MANE Select NP_001026.2:p.Val1077Gly