Canonical Allele Identifier: CA007638
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12962
ClinVar RCV Id: RCV000013828
dbSNP Id: rs121918605

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237784314A>G , CM000663.2:g.237784314A>G GRCh38
NC_000001.10:g.237947614A>G , CM000663.1:g.237947614A>G GRCh37
NC_000001.9:g.236014237A>G NCBI36
NG_008799.2:g.746913A>G
NG_008799.3:g.747131A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*3694A>G ENSP00000499659.2:n.*3694A>G
ENST00000659194.3:c.12590A>G ENSP00000499653.3:p.Gln4197Arg
ENST00000660292.2:c.12623A>G ENSP00000499787.2:p.Gln4208Arg
ENST00000659194.2:c.4779A>G
ENST00000366574.7:c.12602A>G MANE Select ENSP00000355533.2:p.Gln4201Arg
ENST00000659194.1:c.4779A>G
ENST00000660292.1:c.2655A>G
ENST00000360064.7:c.12554A>G ENSP00000353174.7:p.Gln4185Arg
ENST00000366574.6:c.12602A>G ENSP00000355533.2:p.Gln4201Arg
ENST00000609119.1:n.3797A>G
NM_001035.2:c.12602A>G NP_001026.2:p.Gln4201Arg
XM_006711802.2:c.12656A>G XP_006711865.1:p.Gln4219Arg
XM_006711803.2:c.12653A>G XP_006711866.1:p.Gln4218Arg
XM_006711804.2:c.12632A>G XP_006711867.1:p.Gln4211Arg
XM_006711805.2:c.12626A>G XP_006711868.1:p.Gln4209Arg
XM_006711806.2:c.12620A>G XP_006711869.1:p.Gln4207Arg
XM_006711807.2:c.12596A>G XP_006711870.1:p.Gln4199Arg
XM_006711808.2:c.12419A>G XP_006711871.1:p.Gln4140Arg
XM_006711810.2:c.12563A>G XP_006711873.1:p.Gln4188Arg
XM_006711802.3:c.12656A>G XP_006711865.1:p.Gln4219Arg
XM_006711803.3:c.12653A>G XP_006711866.1:p.Gln4218Arg
XM_006711804.3:c.12632A>G XP_006711867.1:p.Gln4211Arg
XM_006711805.3:c.12626A>G XP_006711868.1:p.Gln4209Arg
XM_006711806.3:c.12620A>G XP_006711869.1:p.Gln4207Arg
XM_006711807.3:c.12596A>G XP_006711870.1:p.Gln4199Arg
XM_006711808.3:c.12419A>G XP_006711871.1:p.Gln4140Arg
XM_006711810.3:c.12563A>G XP_006711873.1:p.Gln4188Arg
XM_017002028.1:c.12635A>G XP_016857517.1:p.Gln4212Arg
NM_001035.3:c.12602A>G MANE Select NP_001026.2:p.Gln4201Arg