Canonical Allele Identifier: CA007871
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 165128
ClinVar RCV Id: RCV000151775 RCV000620731 RCV000777878 RCV000766733 RCV000577997 RCV000577938 RCV000578054 RCV000852418 RCV003998229
dbSNP Id: rs571985775
ExAC: 1:237949299 G / A
gnomAD v2: 1-237949299-G-A
gnomAD v3: 1-237785999-G-A
gnomAD v4: 1-237785999-G-A
COSMIC: COSM4234664 COSM4234665
MyVariant Identifiers: chr1:g.237949299G>A (hg19) chr1:g.237785999G>A (hg38)
PubMed: PMID:1572740 PMID:8589694 PMID:11159936 PMID:11208676 PMID:16272262 PMID:17875969 PMID:18483626 PMID:18752142 PMID:19345240 PMID:19362677 PMID:19926015 PMID:22221940 PMID:23022705 PMID:24025405 PMID:24631775 PMID:25041964 PMID:26018045 PMID:27538377 PMID:28237968 PMID:28256248
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237785999G>A , CM000663.2:g.237785999G>A GRCh38
NC_000001.10:g.237949299G>A , CM000663.1:g.237949299G>A GRCh37
NC_000001.9:g.236015922G>A NCBI36
NG_008799.2:g.748598G>A
NG_008799.3:g.748816G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000609119.2:c.*4383G>A ENSP00000499659.2:n.*4383G>A
ENST00000659194.3:c.13273G>A ENSP00000499653.3:p.Glu4425Lys
ENST00000660292.2:c.13312G>A ENSP00000499787.2:p.Glu4438Lys
ENST00000659194.2:c.5462G>A
ENST00000366574.7:c.13291G>A MANE Select ENSP00000355533.2:p.Glu4431Lys
ENST00000660292.1:c.3344G>A
ENST00000360064.7:c.13243+993G>A ENSP00000353174.7:n.13243+993G>A
ENST00000366574.6:c.13291G>A ENSP00000355533.2:p.Glu4431Lys
ENST00000609119.1:n.4486G>A
NM_001035.2:c.13291G>A NP_001026.2:p.Glu4431Lys
XM_006711802.2:c.13345G>A XP_006711865.1:p.Glu4449Lys
XM_006711803.2:c.13342G>A XP_006711866.1:p.Glu4448Lys
XM_006711804.2:c.13321G>A XP_006711867.1:p.Glu4441Lys
XM_006711805.2:c.13315G>A XP_006711868.1:p.Glu4439Lys
XM_006711806.2:c.13309G>A XP_006711869.1:p.Glu4437Lys
XM_006711807.2:c.13285G>A XP_006711870.1:p.Glu4429Lys
XM_006711808.2:c.13108G>A XP_006711871.1:p.Glu4370Lys
XM_006711810.2:c.13252G>A XP_006711873.1:p.Glu4418Lys
XM_006711802.3:c.13345G>A XP_006711865.1:p.Glu4449Lys
XM_006711803.3:c.13342G>A XP_006711866.1:p.Glu4448Lys
XM_006711804.3:c.13321G>A XP_006711867.1:p.Glu4441Lys
XM_006711805.3:c.13315G>A XP_006711868.1:p.Glu4439Lys
XM_006711806.3:c.13309G>A XP_006711869.1:p.Glu4437Lys
XM_006711807.3:c.13285G>A XP_006711870.1:p.Glu4429Lys
XM_006711808.3:c.13108G>A XP_006711871.1:p.Glu4370Lys
XM_006711810.3:c.13252G>A XP_006711873.1:p.Glu4418Lys
XM_017002028.1:c.13324G>A XP_016857517.1:p.Glu4442Lys
NM_001035.3:c.13291G>A MANE Select NP_001026.2:p.Glu4431Lys
Search 100 bp 5'
Search 100 bp 3'