Canonical Allele Identifier: CA008311
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12963
ClinVar RCV Id: RCV001813980 RCV003525856
dbSNP Id: rs121918606
MyVariant Identifiers: chr1:g.237982481C>G (hg19) chr1:g.237819181C>G (hg38)
PubMed: PMID:12093772 PMID:17984046
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237819181C>G , CM000663.2:g.237819181C>G GRCh38
NC_000001.10:g.237982481C>G , CM000663.1:g.237982481C>G GRCh37
NC_000001.9:g.236049104C>G NCBI36
NG_008799.2:g.781780C>G
NG_008799.3:g.781998C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*5671C>G ENSP00000499659.2:n.*5671C>G
ENST00000659194.3:c.14561C>G ENSP00000499653.3:p.Ala4854Gly
ENST00000660292.2:c.14600C>G ENSP00000499787.2:p.Ala4867Gly
ENST00000659194.2:c.6750C>G
ENST00000366574.7:c.14579C>G MANE Select ENSP00000355533.2:p.Ala4860Gly
ENST00000360064.7:c.14528C>G ENSP00000353174.7:p.Ala4843Gly
ENST00000366574.6:c.14579C>G ENSP00000355533.2:p.Ala4860Gly
ENST00000608590.5:n.1090C>G
NM_001035.2:c.14579C>G NP_001026.2:p.Ala4860Gly
XM_006711802.2:c.14633C>G XP_006711865.1:p.Ala4878Gly
XM_006711803.2:c.14630C>G XP_006711866.1:p.Ala4877Gly
XM_006711804.2:c.14609C>G XP_006711867.1:p.Ala4870Gly
XM_006711805.2:c.14603C>G XP_006711868.1:p.Ala4868Gly
XM_006711806.2:c.14597C>G XP_006711869.1:p.Ala4866Gly
XM_006711807.2:c.14573C>G XP_006711870.1:p.Ala4858Gly
XM_006711808.2:c.14396C>G XP_006711871.1:p.Ala4799Gly
XM_006711810.2:c.14540C>G XP_006711873.1:p.Ala4847Gly
XM_006711802.3:c.14633C>G XP_006711865.1:p.Ala4878Gly
XM_006711803.3:c.14630C>G XP_006711866.1:p.Ala4877Gly
XM_006711804.3:c.14609C>G XP_006711867.1:p.Ala4870Gly
XM_006711805.3:c.14603C>G XP_006711868.1:p.Ala4868Gly
XM_006711806.3:c.14597C>G XP_006711869.1:p.Ala4866Gly
XM_006711807.3:c.14573C>G XP_006711870.1:p.Ala4858Gly
XM_006711808.3:c.14396C>G XP_006711871.1:p.Ala4799Gly
XM_006711810.3:c.14540C>G XP_006711873.1:p.Ala4847Gly
XM_017002028.1:c.14612C>G XP_016857517.1:p.Ala4871Gly
NM_001035.3:c.14579C>G MANE Select NP_001026.2:p.Ala4860Gly
Search 100 bp 5'
Search 100 bp 3'