Canonical Allele Identifier: CA010282
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12954
dbSNP Id: rs121918597

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237634937C>T , CM000663.2:g.237634937C>T GRCh38
NC_000001.10:g.237798237C>T , CM000663.1:g.237798237C>T GRCh37
NC_000001.9:g.235864860C>T NCBI36
NG_008799.2:g.597536C>T
NG_008799.3:g.597754C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.6737C>T ENSP00000499659.2:p.Ser2246Leu
ENST00000659194.3:c.6737C>T ENSP00000499653.3:p.Ser2246Leu
ENST00000660292.2:c.6737C>T ENSP00000499787.2:p.Ser2246Leu
ENST00000366574.7:c.6737C>T MANE Select ENSP00000355533.2:p.Ser2246Leu
ENST00000360064.7:c.6689C>T ENSP00000353174.7:p.Ser2230Leu
ENST00000366574.6:c.6737C>T ENSP00000355533.2:p.Ser2246Leu
NM_001035.2:c.6737C>T NP_001026.2:p.Ser2246Leu
XM_006711802.2:c.6767C>T XP_006711865.1:p.Ser2256Leu
XM_006711803.2:c.6764C>T XP_006711866.1:p.Ser2255Leu
XM_006711804.2:c.6767C>T XP_006711867.1:p.Ser2256Leu
XM_006711805.2:c.6737C>T XP_006711868.1:p.Ser2246Leu
XM_006711806.2:c.6767C>T XP_006711869.1:p.Ser2256Leu
XM_006711807.2:c.6767C>T XP_006711870.1:p.Ser2256Leu
XM_006711808.2:c.6767C>T XP_006711871.1:p.Ser2256Leu
XM_006711809.2:c.6767C>T XP_006711872.1:p.Ser2256Leu
XM_006711810.2:c.6734C>T XP_006711873.1:p.Ser2245Leu
XR_949152.1:n.7048C>T
XM_006711802.3:c.6767C>T XP_006711865.1:p.Ser2256Leu
XM_006711803.3:c.6764C>T XP_006711866.1:p.Ser2255Leu
XM_006711804.3:c.6767C>T XP_006711867.1:p.Ser2256Leu
XM_006711805.3:c.6737C>T XP_006711868.1:p.Ser2246Leu
XM_006711806.3:c.6767C>T XP_006711869.1:p.Ser2256Leu
XM_006711807.3:c.6767C>T XP_006711870.1:p.Ser2256Leu
XM_006711808.3:c.6767C>T XP_006711871.1:p.Ser2256Leu
XM_006711810.3:c.6734C>T XP_006711873.1:p.Ser2245Leu
XM_017002028.1:c.6746C>T XP_016857517.1:p.Ser2249Leu
XR_002957299.1:n.7081C>T
XR_949152.2:n.7081C>T
NM_001035.3:c.6737C>T MANE Select NP_001026.2:p.Ser2246Leu