Canonical Allele Identifier: CA011061
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43834
ClinVar RCV Id: RCV000036800 RCV000295186 RCV000387143 RCV000775998
dbSNP Id: rs16835237
ExAC: 1:237586384 T / C
gnomAD v2: 1-237586384-T-C
gnomAD v3: 1-237423084-T-C
gnomAD v4: 1-237423084-T-C
MyVariant Identifiers: chr1:g.237586384T>C (hg19) chr1:g.237423084T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237423084T>C , CM000663.2:g.237423084T>C GRCh38
NC_000001.10:g.237586384T>C , CM000663.1:g.237586384T>C GRCh37
NC_000001.9:g.235653007T>C NCBI36
NG_008799.2:g.385683T>C
NG_008799.3:g.385901T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.849-8T>C ENSP00000499659.2:n.849-8T>C
ENST00000659194.3:c.849-8T>C ENSP00000499653.3:n.849-8T>C
ENST00000660292.2:c.849-8T>C ENSP00000499787.2:n.849-8T>C
ENST00000366574.7:c.849-8T>C MANE Select ENSP00000355533.2:n.849-8T>C
ENST00000360064.7:c.801-8T>C ENSP00000353174.7:n.801-8T>C
ENST00000366574.6:c.849-8T>C ENSP00000355533.2:n.849-8T>C
NM_001035.2:c.849-8T>C NP_001026.2:n.849-8T>C
XM_006711802.2:c.849-8T>C XP_006711865.1:n.849-8T>C
XM_006711803.2:c.849-8T>C XP_006711866.1:n.849-8T>C
XM_006711804.2:c.849-8T>C XP_006711867.1:n.849-8T>C
XM_006711805.2:c.849-8T>C XP_006711868.1:n.849-8T>C
XM_006711806.2:c.849-8T>C XP_006711869.1:n.849-8T>C
XM_006711807.2:c.849-8T>C XP_006711870.1:n.849-8T>C
XM_006711808.2:c.849-8T>C XP_006711871.1:n.849-8T>C
XM_006711809.2:c.849-8T>C XP_006711872.1:n.849-8T>C
XM_006711810.2:c.849-8T>C XP_006711873.1:n.849-8T>C
XR_949152.1:n.1130-8T>C
XM_006711802.3:c.849-8T>C XP_006711865.1:n.849-8T>C
XM_006711803.3:c.849-8T>C XP_006711866.1:n.849-8T>C
XM_006711804.3:c.849-8T>C XP_006711867.1:n.849-8T>C
XM_006711805.3:c.849-8T>C XP_006711868.1:n.849-8T>C
XM_006711806.3:c.849-8T>C XP_006711869.1:n.849-8T>C
XM_006711807.3:c.849-8T>C XP_006711870.1:n.849-8T>C
XM_006711808.3:c.849-8T>C XP_006711871.1:n.849-8T>C
XM_006711810.3:c.849-8T>C XP_006711873.1:n.849-8T>C
XM_017002028.1:c.828-8T>C XP_016857517.1:n.828-8T>C
XR_002957299.1:n.1163-8T>C
XR_949152.2:n.1163-8T>C
NM_001035.3:c.849-8T>C MANE Select NP_001026.2:n.849-8T>C
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