Canonical Allele Identifier: CA345375521
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427184
ClinVar RCV Id: RCV000489848
dbSNP Id: rs1085308008
MyVariant Identifiers: chr1:g.237540661C>G (hg19) chr1:g.237377361C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237377361C>G , CM000663.2:g.237377361C>G GRCh38
NC_000001.10:g.237540661C>G , CM000663.1:g.237540661C>G GRCh37
NC_000001.9:g.235607284C>G NCBI36
NG_008799.2:g.339960C>G
NG_008799.3:g.340178C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.502C>G ENSP00000499659.2:p.Gln168Glu
ENST00000659194.3:c.502C>G ENSP00000499653.3:p.Gln168Glu
ENST00000660292.2:c.502C>G ENSP00000499787.2:p.Gln168Glu
ENST00000366574.7:c.502C>G MANE Select ENSP00000355533.2:p.Gln168Glu
ENST00000360064.7:c.454C>G ENSP00000353174.7:p.Gln152Glu
ENST00000366574.6:c.502C>G ENSP00000355533.2:p.Gln168Glu
NM_001035.2:c.502C>G NP_001026.2:p.Gln168Glu
XM_006711802.2:c.502C>G XP_006711865.1:p.Gln168Glu
XM_006711803.2:c.502C>G XP_006711866.1:p.Gln168Glu
XM_006711804.2:c.502C>G XP_006711867.1:p.Gln168Glu
XM_006711805.2:c.502C>G XP_006711868.1:p.Gln168Glu
XM_006711806.2:c.502C>G XP_006711869.1:p.Gln168Glu
XM_006711807.2:c.502C>G XP_006711870.1:p.Gln168Glu
XM_006711808.2:c.502C>G XP_006711871.1:p.Gln168Glu
XM_006711809.2:c.502C>G XP_006711872.1:p.Gln168Glu
XM_006711810.2:c.502C>G XP_006711873.1:p.Gln168Glu
XR_949152.1:n.783C>G
XM_006711802.3:c.502C>G XP_006711865.1:p.Gln168Glu
XM_006711803.3:c.502C>G XP_006711866.1:p.Gln168Glu
XM_006711804.3:c.502C>G XP_006711867.1:p.Gln168Glu
XM_006711805.3:c.502C>G XP_006711868.1:p.Gln168Glu
XM_006711806.3:c.502C>G XP_006711869.1:p.Gln168Glu
XM_006711807.3:c.502C>G XP_006711870.1:p.Gln168Glu
XM_006711808.3:c.502C>G XP_006711871.1:p.Gln168Glu
XM_006711810.3:c.502C>G XP_006711873.1:p.Gln168Glu
XM_017002028.1:c.481C>G XP_016857517.1:p.Gln161Glu
XR_002957299.1:n.816C>G
XR_949152.2:n.816C>G
NM_001035.3:c.502C>G MANE Select NP_001026.2:p.Gln168Glu
Search 100 bp 5'
Search 100 bp 3'