Canonical Allele Identifier: CA008227
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36734
ClinVar RCV Id: RCV001841540
dbSNP Id: rs193922622
MyVariant Identifiers: chr1:g.237972216G>A (hg19) chr1:g.237808916G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237808916G>A , CM000663.2:g.237808916G>A GRCh38
NC_000001.10:g.237972216G>A , CM000663.1:g.237972216G>A GRCh37
NC_000001.9:g.236038839G>A NCBI36
NG_008799.2:g.771515G>A
NG_008799.3:g.771733G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*5406G>A ENSP00000499659.2:n.*5406G>A
ENST00000659194.3:c.14296G>A ENSP00000499653.3:p.Gly4766Ser
ENST00000660292.2:c.14335G>A ENSP00000499787.2:p.Gly4779Ser
ENST00000659194.2:c.6485G>A
ENST00000366574.7:c.14314G>A MANE Select ENSP00000355533.2:p.Gly4772Ser
ENST00000360064.7:c.14263G>A ENSP00000353174.7:p.Gly4755Ser
ENST00000366574.6:c.14314G>A ENSP00000355533.2:p.Gly4772Ser
ENST00000608590.5:n.825G>A
NM_001035.2:c.14314G>A NP_001026.2:p.Gly4772Ser
XM_006711802.2:c.14368G>A XP_006711865.1:p.Gly4790Ser
XM_006711803.2:c.14365G>A XP_006711866.1:p.Gly4789Ser
XM_006711804.2:c.14344G>A XP_006711867.1:p.Gly4782Ser
XM_006711805.2:c.14338G>A XP_006711868.1:p.Gly4780Ser
XM_006711806.2:c.14332G>A XP_006711869.1:p.Gly4778Ser
XM_006711807.2:c.14308G>A XP_006711870.1:p.Gly4770Ser
XM_006711808.2:c.14131G>A XP_006711871.1:p.Gly4711Ser
XM_006711810.2:c.14275G>A XP_006711873.1:p.Gly4759Ser
XM_006711802.3:c.14368G>A XP_006711865.1:p.Gly4790Ser
XM_006711803.3:c.14365G>A XP_006711866.1:p.Gly4789Ser
XM_006711804.3:c.14344G>A XP_006711867.1:p.Gly4782Ser
XM_006711805.3:c.14338G>A XP_006711868.1:p.Gly4780Ser
XM_006711806.3:c.14332G>A XP_006711869.1:p.Gly4778Ser
XM_006711807.3:c.14308G>A XP_006711870.1:p.Gly4770Ser
XM_006711808.3:c.14131G>A XP_006711871.1:p.Gly4711Ser
XM_006711810.3:c.14275G>A XP_006711873.1:p.Gly4759Ser
XM_017002028.1:c.14347G>A XP_016857517.1:p.Gly4783Ser
NM_001035.3:c.14314G>A MANE Select NP_001026.2:p.Gly4772Ser
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