Canonical Allele Identifier: CA009141
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43767
dbSNP Id: rs202176504

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.3230T>C ENSP00000499659.2:p.Val1077Ala
ENST00000659194.3:c.3230T>C ENSP00000499653.3:p.Val1077Ala
ENST00000660292.2:c.3230T>C ENSP00000499787.2:p.Val1077Ala
ENST00000366574.7:c.3230T>C MANE Select ENSP00000355533.2:p.Val1077Ala
ENST00000360064.7:c.3182T>C ENSP00000353174.7:p.Val1061Ala
ENST00000366574.6:c.3230T>C ENSP00000355533.2:p.Val1077Ala
NM_001035.2:c.3230T>C NP_001026.2:p.Val1077Ala
XM_006711802.2:c.3230T>C XP_006711865.1:p.Val1077Ala
XM_006711803.2:c.3227T>C XP_006711866.1:p.Val1076Ala
XM_006711804.2:c.3230T>C XP_006711867.1:p.Val1077Ala
XM_006711805.2:c.3230T>C XP_006711868.1:p.Val1077Ala
XM_006711806.2:c.3230T>C XP_006711869.1:p.Val1077Ala
XM_006711807.2:c.3230T>C XP_006711870.1:p.Val1077Ala
XM_006711808.2:c.3230T>C XP_006711871.1:p.Val1077Ala
XM_006711809.2:c.3230T>C XP_006711872.1:p.Val1077Ala
XM_006711810.2:c.3227T>C XP_006711873.1:p.Val1076Ala
XR_949152.1:n.3511T>C
XM_006711802.3:c.3230T>C XP_006711865.1:p.Val1077Ala
XM_006711803.3:c.3227T>C XP_006711866.1:p.Val1076Ala
XM_006711804.3:c.3230T>C XP_006711867.1:p.Val1077Ala
XM_006711805.3:c.3230T>C XP_006711868.1:p.Val1077Ala
XM_006711806.3:c.3230T>C XP_006711869.1:p.Val1077Ala
XM_006711807.3:c.3230T>C XP_006711870.1:p.Val1077Ala
XM_006711808.3:c.3230T>C XP_006711871.1:p.Val1077Ala
XM_006711810.3:c.3227T>C XP_006711873.1:p.Val1076Ala
XM_017002028.1:c.3209T>C XP_016857517.1:p.Val1070Ala
XR_002957299.1:n.3544T>C
XR_949152.2:n.3544T>C
NM_001035.3:c.3230T>C MANE Select NP_001026.2:p.Val1077Ala