Canonical Allele Identifier: CA087757

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1059453
• ClinVar RCV Id: RCV002550078 ; RCV003481097 ; RCV004037054
• dbSNP Id: rs759048462
• ExAC: 1:237841396 T / C
• gnomAD v2: 1-237841396-T-C
• gnomAD v3: 1-237678096-T-C
• gnomAD v4: 1-237678096-T-C
• MyVariant Identifiers: chr1:g.237841396T>C (hg19) ; chr1:g.237678096T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678096T>C , CM000663.2:g.237678096T>C	GRCh38
NC_000001.10:g.237841396T>C , CM000663.1:g.237841396T>C	GRCh37
NC_000001.9:g.235908019T>C	NCBI36
NG_008799.2:g.640695T>C
NG_008799.3:g.640913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2360T>C	ENSP00000499659.2:n.8831-2360T>C
ENST00000659194.3:c.8879T>C	ENSP00000499653.3:p.Ile2960Thr
ENST00000660292.2:c.8879T>C	ENSP00000499787.2:p.Ile2960Thr
ENST00000659194.2:c.1068T>C
ENST00000366574.7:c.8879T>C MANE Select	ENSP00000355533.2:p.Ile2960Thr
ENST00000659194.1:c.1068T>C
ENST00000360064.7:c.8831T>C	ENSP00000353174.7:p.Ile2944Thr
ENST00000366574.6:c.8879T>C	ENSP00000355533.2:p.Ile2960Thr
ENST00000609119.1:n.84-2360T>C
NM_001035.2:c.8879T>C	NP_001026.2:p.Ile2960Thr
XM_006711802.2:c.8909T>C	XP_006711865.1:p.Ile2970Thr
XM_006711803.2:c.8906T>C	XP_006711866.1:p.Ile2969Thr
XM_006711804.2:c.8909T>C	XP_006711867.1:p.Ile2970Thr
XM_006711805.2:c.8879T>C	XP_006711868.1:p.Ile2960Thr
XM_006711806.2:c.8909T>C	XP_006711869.1:p.Ile2970Thr
XM_006711807.2:c.8909T>C	XP_006711870.1:p.Ile2970Thr
XM_006711808.2:c.8860+3250T>C	XP_006711871.1:n.8860+3250T>C
XM_006711810.2:c.8876T>C	XP_006711873.1:p.Ile2959Thr
XR_949152.1:n.9190T>C
XM_006711802.3:c.8909T>C	XP_006711865.1:p.Ile2970Thr
XM_006711803.3:c.8906T>C	XP_006711866.1:p.Ile2969Thr
XM_006711804.3:c.8909T>C	XP_006711867.1:p.Ile2970Thr
XM_006711805.3:c.8879T>C	XP_006711868.1:p.Ile2960Thr
XM_006711806.3:c.8909T>C	XP_006711869.1:p.Ile2970Thr
XM_006711807.3:c.8909T>C	XP_006711870.1:p.Ile2970Thr
XM_006711808.3:c.8860+3250T>C	XP_006711871.1:n.8860+3250T>C
XM_006711810.3:c.8876T>C	XP_006711873.1:p.Ile2959Thr
XM_017002028.1:c.8888T>C	XP_016857517.1:p.Ile2963Thr
XR_949152.2:n.9223T>C
NM_001035.3:c.8879T>C MANE Select	NP_001026.2:p.Ile2960Thr