Canonical Allele Identifier: CA007930
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201402
ClinVar RCV Id: RCV000182892
dbSNP Id: rs794728829
gnomAD v4: 1-237791468-G-C
MyVariant Identifiers: chr1:g.237954768G>C (hg19) chr1:g.237791468G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237791468G>C , CM000663.2:g.237791468G>C GRCh38
NC_000001.10:g.237954768G>C , CM000663.1:g.237954768G>C GRCh37
NC_000001.9:g.236021391G>C NCBI36
NG_008799.2:g.754067G>C
NG_008799.3:g.754285G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*4608G>C ENSP00000499659.2:n.*4608G>C
ENST00000659194.3:c.13498G>C ENSP00000499653.3:p.Ala4500Pro
ENST00000660292.2:c.13537G>C ENSP00000499787.2:p.Ala4513Pro
ENST00000659194.2:c.5687G>C
ENST00000366574.7:c.13516G>C MANE Select ENSP00000355533.2:p.Ala4506Pro
ENST00000660292.1:c.3569G>C
ENST00000360064.7:c.13465G>C ENSP00000353174.7:p.Ala4489Pro
ENST00000366574.6:c.13516G>C ENSP00000355533.2:p.Ala4506Pro
NM_001035.2:c.13516G>C NP_001026.2:p.Ala4506Pro
XM_006711802.2:c.13570G>C XP_006711865.1:p.Ala4524Pro
XM_006711803.2:c.13567G>C XP_006711866.1:p.Ala4523Pro
XM_006711804.2:c.13546G>C XP_006711867.1:p.Ala4516Pro
XM_006711805.2:c.13540G>C XP_006711868.1:p.Ala4514Pro
XM_006711806.2:c.13534G>C XP_006711869.1:p.Ala4512Pro
XM_006711807.2:c.13510G>C XP_006711870.1:p.Ala4504Pro
XM_006711808.2:c.13333G>C XP_006711871.1:p.Ala4445Pro
XM_006711810.2:c.13477G>C XP_006711873.1:p.Ala4493Pro
XM_006711802.3:c.13570G>C XP_006711865.1:p.Ala4524Pro
XM_006711803.3:c.13567G>C XP_006711866.1:p.Ala4523Pro
XM_006711804.3:c.13546G>C XP_006711867.1:p.Ala4516Pro
XM_006711805.3:c.13540G>C XP_006711868.1:p.Ala4514Pro
XM_006711806.3:c.13534G>C XP_006711869.1:p.Ala4512Pro
XM_006711807.3:c.13510G>C XP_006711870.1:p.Ala4504Pro
XM_006711808.3:c.13333G>C XP_006711871.1:p.Ala4445Pro
XM_006711810.3:c.13477G>C XP_006711873.1:p.Ala4493Pro
XM_017002028.1:c.13549G>C XP_016857517.1:p.Ala4517Pro
NM_001035.3:c.13516G>C MANE Select NP_001026.2:p.Ala4506Pro
Search 100 bp 5'
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