Canonical Allele Identifier: CA345410102
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427164
ClinVar RCV Id: RCV000490203
dbSNP Id: rs1085307997
MyVariant Identifiers: chr1:g.237944898A>G (hg19) chr1:g.237781598A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237781598A>G , CM000663.2:g.237781598A>G GRCh38
NC_000001.10:g.237944898A>G , CM000663.1:g.237944898A>G GRCh37
NC_000001.9:g.236011521A>G NCBI36
NG_008799.2:g.744197A>G
NG_008799.3:g.744415A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*3006A>G ENSP00000499659.2:n.*3006A>G
ENST00000659194.3:c.11902A>G ENSP00000499653.3:p.Met3968Val
ENST00000660292.2:c.11935A>G ENSP00000499787.2:p.Met3979Val
ENST00000659194.2:c.4091A>G
ENST00000366574.7:c.11914A>G MANE Select ENSP00000355533.2:p.Met3972Val
ENST00000659194.1:c.4091A>G
ENST00000660292.1:c.1967A>G
ENST00000360064.7:c.11866A>G ENSP00000353174.7:p.Met3956Val
ENST00000366574.6:c.11914A>G ENSP00000355533.2:p.Met3972Val
ENST00000609119.1:n.3109A>G
NM_001035.2:c.11914A>G NP_001026.2:p.Met3972Val
XM_006711802.2:c.11968A>G XP_006711865.1:p.Met3990Val
XM_006711803.2:c.11965A>G XP_006711866.1:p.Met3989Val
XM_006711804.2:c.11944A>G XP_006711867.1:p.Met3982Val
XM_006711805.2:c.11938A>G XP_006711868.1:p.Met3980Val
XM_006711806.2:c.11932A>G XP_006711869.1:p.Met3978Val
XM_006711807.2:c.11908A>G XP_006711870.1:p.Met3970Val
XM_006711808.2:c.11731A>G XP_006711871.1:p.Met3911Val
XM_006711810.2:c.11875A>G XP_006711873.1:p.Met3959Val
XM_006711802.3:c.11968A>G XP_006711865.1:p.Met3990Val
XM_006711803.3:c.11965A>G XP_006711866.1:p.Met3989Val
XM_006711804.3:c.11944A>G XP_006711867.1:p.Met3982Val
XM_006711805.3:c.11938A>G XP_006711868.1:p.Met3980Val
XM_006711806.3:c.11932A>G XP_006711869.1:p.Met3978Val
XM_006711807.3:c.11908A>G XP_006711870.1:p.Met3970Val
XM_006711808.3:c.11731A>G XP_006711871.1:p.Met3911Val
XM_006711810.3:c.11875A>G XP_006711873.1:p.Met3959Val
XM_017002028.1:c.11947A>G XP_016857517.1:p.Met3983Val
NM_001035.3:c.11914A>G MANE Select NP_001026.2:p.Met3972Val
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