Canonical Allele Identifier: CA087760
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2454020
ClinVar RCV Id: RCV003188155
dbSNP Id: rs760434323

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237678110A>G , CM000663.2:g.237678110A>G GRCh38
NC_000001.10:g.237841410A>G , CM000663.1:g.237841410A>G GRCh37
NC_000001.9:g.235908033A>G NCBI36
NG_008799.2:g.640709A>G
NG_008799.3:g.640927A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.8831-2346A>G ENSP00000499659.2:n.8831-2346A>G
ENST00000659194.3:c.8893A>G ENSP00000499653.3:p.Lys2965Glu
ENST00000660292.2:c.8893A>G ENSP00000499787.2:p.Lys2965Glu
ENST00000659194.2:c.1082A>G
ENST00000366574.7:c.8893A>G MANE Select ENSP00000355533.2:p.Lys2965Glu
ENST00000659194.1:c.1082A>G
ENST00000360064.7:c.8845A>G ENSP00000353174.7:p.Lys2949Glu
ENST00000366574.6:c.8893A>G ENSP00000355533.2:p.Lys2965Glu
ENST00000609119.1:n.84-2346A>G
NM_001035.2:c.8893A>G NP_001026.2:p.Lys2965Glu
XM_006711802.2:c.8923A>G XP_006711865.1:p.Lys2975Glu
XM_006711803.2:c.8920A>G XP_006711866.1:p.Lys2974Glu
XM_006711804.2:c.8923A>G XP_006711867.1:p.Lys2975Glu
XM_006711805.2:c.8893A>G XP_006711868.1:p.Lys2965Glu
XM_006711806.2:c.8923A>G XP_006711869.1:p.Lys2975Glu
XM_006711807.2:c.8923A>G XP_006711870.1:p.Lys2975Glu
XM_006711808.2:c.8860+3264A>G XP_006711871.1:n.8860+3264A>G
XM_006711810.2:c.8890A>G XP_006711873.1:p.Lys2964Glu
XR_949152.1:n.9204A>G
XM_006711802.3:c.8923A>G XP_006711865.1:p.Lys2975Glu
XM_006711803.3:c.8920A>G XP_006711866.1:p.Lys2974Glu
XM_006711804.3:c.8923A>G XP_006711867.1:p.Lys2975Glu
XM_006711805.3:c.8893A>G XP_006711868.1:p.Lys2965Glu
XM_006711806.3:c.8923A>G XP_006711869.1:p.Lys2975Glu
XM_006711807.3:c.8923A>G XP_006711870.1:p.Lys2975Glu
XM_006711808.3:c.8860+3264A>G XP_006711871.1:n.8860+3264A>G
XM_006711810.3:c.8890A>G XP_006711873.1:p.Lys2964Glu
XM_017002028.1:c.8902A>G XP_016857517.1:p.Lys2968Glu
XR_949152.2:n.9237A>G
NM_001035.3:c.8893A>G MANE Select NP_001026.2:p.Lys2965Glu