Canonical Allele Identifier: CA007921
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12957
dbSNP Id: rs121918600

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237791441C>T , CM000663.2:g.237791441C>T GRCh38
NC_000001.10:g.237954741C>T , CM000663.1:g.237954741C>T GRCh37
NC_000001.9:g.236021364C>T NCBI36
NG_008799.2:g.754040C>T
NG_008799.3:g.754258C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*4581C>T ENSP00000499659.2:n.*4581C>T
ENST00000659194.3:c.13471C>T ENSP00000499653.3:p.Arg4491Cys
ENST00000660292.2:c.13510C>T ENSP00000499787.2:p.Arg4504Cys
ENST00000659194.2:c.5660C>T
ENST00000366574.7:c.13489C>T MANE Select ENSP00000355533.2:p.Arg4497Cys
ENST00000660292.1:c.3542C>T
ENST00000360064.7:c.13438C>T ENSP00000353174.7:p.Arg4480Cys
ENST00000366574.6:c.13489C>T ENSP00000355533.2:p.Arg4497Cys
NM_001035.2:c.13489C>T NP_001026.2:p.Arg4497Cys
XM_006711802.2:c.13543C>T XP_006711865.1:p.Arg4515Cys
XM_006711803.2:c.13540C>T XP_006711866.1:p.Arg4514Cys
XM_006711804.2:c.13519C>T XP_006711867.1:p.Arg4507Cys
XM_006711805.2:c.13513C>T XP_006711868.1:p.Arg4505Cys
XM_006711806.2:c.13507C>T XP_006711869.1:p.Arg4503Cys
XM_006711807.2:c.13483C>T XP_006711870.1:p.Arg4495Cys
XM_006711808.2:c.13306C>T XP_006711871.1:p.Arg4436Cys
XM_006711810.2:c.13450C>T XP_006711873.1:p.Arg4484Cys
XM_006711802.3:c.13543C>T XP_006711865.1:p.Arg4515Cys
XM_006711803.3:c.13540C>T XP_006711866.1:p.Arg4514Cys
XM_006711804.3:c.13519C>T XP_006711867.1:p.Arg4507Cys
XM_006711805.3:c.13513C>T XP_006711868.1:p.Arg4505Cys
XM_006711806.3:c.13507C>T XP_006711869.1:p.Arg4503Cys
XM_006711807.3:c.13483C>T XP_006711870.1:p.Arg4495Cys
XM_006711808.3:c.13306C>T XP_006711871.1:p.Arg4436Cys
XM_006711810.3:c.13450C>T XP_006711873.1:p.Arg4484Cys
XM_017002028.1:c.13522C>T XP_016857517.1:p.Arg4508Cys
NM_001035.3:c.13489C>T MANE Select NP_001026.2:p.Arg4497Cys