Canonical Allele Identifier: CA007077
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 155833
ClinVar RCV Id: RCV000143948 RCV000182797
dbSNP Id: rs587782975
gnomAD v4: 1-237772024-A-G
MyVariant Identifiers: chr1:g.237935324A>G (hg19) chr1:g.237772024A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237772024A>G , CM000663.2:g.237772024A>G GRCh38
NC_000001.10:g.237935324A>G , CM000663.1:g.237935324A>G GRCh37
NC_000001.9:g.236001947A>G NCBI36
NG_008799.2:g.734623A>G
NG_008799.3:g.734841A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*2662A>G ENSP00000499659.2:n.*2662A>G
ENST00000659194.3:c.11558A>G ENSP00000499653.3:p.Tyr3853Cys
ENST00000660292.2:c.11591A>G ENSP00000499787.2:p.Tyr3864Cys
ENST00000659194.2:c.3747A>G
ENST00000366574.7:c.11570A>G MANE Select ENSP00000355533.2:p.Tyr3857Cys
ENST00000659194.1:c.3747A>G
ENST00000660292.1:c.1623A>G
ENST00000360064.7:c.11522A>G ENSP00000353174.7:p.Tyr3841Cys
ENST00000366574.6:c.11570A>G ENSP00000355533.2:p.Tyr3857Cys
ENST00000609119.1:n.2765A>G
NM_001035.2:c.11570A>G NP_001026.2:p.Tyr3857Cys
XM_006711802.2:c.11624A>G XP_006711865.1:p.Tyr3875Cys
XM_006711803.2:c.11621A>G XP_006711866.1:p.Tyr3874Cys
XM_006711804.2:c.11600A>G XP_006711867.1:p.Tyr3867Cys
XM_006711805.2:c.11594A>G XP_006711868.1:p.Tyr3865Cys
XM_006711806.2:c.11588A>G XP_006711869.1:p.Tyr3863Cys
XM_006711807.2:c.11564A>G XP_006711870.1:p.Tyr3855Cys
XM_006711808.2:c.11387A>G XP_006711871.1:p.Tyr3796Cys
XM_006711810.2:c.11531A>G XP_006711873.1:p.Tyr3844Cys
XM_006711802.3:c.11624A>G XP_006711865.1:p.Tyr3875Cys
XM_006711803.3:c.11621A>G XP_006711866.1:p.Tyr3874Cys
XM_006711804.3:c.11600A>G XP_006711867.1:p.Tyr3867Cys
XM_006711805.3:c.11594A>G XP_006711868.1:p.Tyr3865Cys
XM_006711806.3:c.11588A>G XP_006711869.1:p.Tyr3863Cys
XM_006711807.3:c.11564A>G XP_006711870.1:p.Tyr3855Cys
XM_006711808.3:c.11387A>G XP_006711871.1:p.Tyr3796Cys
XM_006711810.3:c.11531A>G XP_006711873.1:p.Tyr3844Cys
XM_017002028.1:c.11603A>G XP_016857517.1:p.Tyr3868Cys
NM_001035.3:c.11570A>G MANE Select NP_001026.2:p.Tyr3857Cys
Search 100 bp 5'
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