Canonical Allele Identifier: CA010110
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 43813
ClinVar RCV Id: RCV000036777 RCV000171764 RCV000620555 RCV000766718 RCV000769789 RCV001099125
dbSNP Id: rs186906598
ExAC: 1:237791277 G / A
gnomAD v2: 1-237791277-G-A
gnomAD v3: 1-237627977-G-A
gnomAD v4: 1-237627977-G-A
MyVariant Identifiers: chr1:g.237791277G>A (hg19) chr1:g.237627977G>A (hg38)
PubMed: PMID:19926015 PMID:22677073 PMID:23861362 PMID:24025405 PMID:24503780 PMID:26524594 PMID:27153395 PMID:27538377
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237627977G>A , CM000663.2:g.237627977G>A GRCh38
NC_000001.10:g.237791277G>A , CM000663.1:g.237791277G>A GRCh37
NC_000001.9:g.235857900G>A NCBI36
NG_008799.2:g.590576G>A
NG_008799.3:g.590794G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.6337G>A ENSP00000499659.2:p.Val2113Met
ENST00000659194.3:c.6337G>A ENSP00000499653.3:p.Val2113Met
ENST00000660292.2:c.6337G>A ENSP00000499787.2:p.Val2113Met
ENST00000366574.7:c.6337G>A MANE Select ENSP00000355533.2:p.Val2113Met
ENST00000360064.7:c.6289G>A ENSP00000353174.7:p.Val2097Met
ENST00000366574.6:c.6337G>A ENSP00000355533.2:p.Val2113Met
NM_001035.2:c.6337G>A NP_001026.2:p.Val2113Met
XM_006711802.2:c.6367G>A XP_006711865.1:p.Val2123Met
XM_006711803.2:c.6364G>A XP_006711866.1:p.Val2122Met
XM_006711804.2:c.6367G>A XP_006711867.1:p.Val2123Met
XM_006711805.2:c.6337G>A XP_006711868.1:p.Val2113Met
XM_006711806.2:c.6367G>A XP_006711869.1:p.Val2123Met
XM_006711807.2:c.6367G>A XP_006711870.1:p.Val2123Met
XM_006711808.2:c.6367G>A XP_006711871.1:p.Val2123Met
XM_006711809.2:c.6367G>A XP_006711872.1:p.Val2123Met
XM_006711810.2:c.6334G>A XP_006711873.1:p.Val2112Met
XR_949152.1:n.6648G>A
XM_006711802.3:c.6367G>A XP_006711865.1:p.Val2123Met
XM_006711803.3:c.6364G>A XP_006711866.1:p.Val2122Met
XM_006711804.3:c.6367G>A XP_006711867.1:p.Val2123Met
XM_006711805.3:c.6337G>A XP_006711868.1:p.Val2113Met
XM_006711806.3:c.6367G>A XP_006711869.1:p.Val2123Met
XM_006711807.3:c.6367G>A XP_006711870.1:p.Val2123Met
XM_006711808.3:c.6367G>A XP_006711871.1:p.Val2123Met
XM_006711810.3:c.6334G>A XP_006711873.1:p.Val2112Met
XM_017002028.1:c.6346G>A XP_016857517.1:p.Val2116Met
XR_002957299.1:n.6681G>A
XR_949152.2:n.6681G>A
NM_001035.3:c.6337G>A MANE Select NP_001026.2:p.Val2113Met
Search 100 bp 5'
Search 100 bp 3'