Canonical Allele Identifier: CA007573
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 201334
ClinVar RCV Id: RCV000182820
dbSNP Id: rs794728787
MyVariant Identifiers: chr1:g.237947545A>G (hg19) chr1:g.237784245A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237784245A>G , CM000663.2:g.237784245A>G GRCh38
NC_000001.10:g.237947545A>G , CM000663.1:g.237947545A>G GRCh37
NC_000001.9:g.236014168A>G NCBI36
NG_008799.2:g.746844A>G
NG_008799.3:g.747062A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*3625A>G ENSP00000499659.2:n.*3625A>G
ENST00000659194.3:c.12521A>G ENSP00000499653.3:p.Asn4174Ser
ENST00000660292.2:c.12554A>G ENSP00000499787.2:p.Asn4185Ser
ENST00000659194.2:c.4710A>G
ENST00000366574.7:c.12533A>G MANE Select ENSP00000355533.2:p.Asn4178Ser
ENST00000659194.1:c.4710A>G
ENST00000660292.1:c.2586A>G
ENST00000360064.7:c.12485A>G ENSP00000353174.7:p.Asn4162Ser
ENST00000366574.6:c.12533A>G ENSP00000355533.2:p.Asn4178Ser
ENST00000609119.1:n.3728A>G
NM_001035.2:c.12533A>G NP_001026.2:p.Asn4178Ser
XM_006711802.2:c.12587A>G XP_006711865.1:p.Asn4196Ser
XM_006711803.2:c.12584A>G XP_006711866.1:p.Asn4195Ser
XM_006711804.2:c.12563A>G XP_006711867.1:p.Asn4188Ser
XM_006711805.2:c.12557A>G XP_006711868.1:p.Asn4186Ser
XM_006711806.2:c.12551A>G XP_006711869.1:p.Asn4184Ser
XM_006711807.2:c.12527A>G XP_006711870.1:p.Asn4176Ser
XM_006711808.2:c.12350A>G XP_006711871.1:p.Asn4117Ser
XM_006711810.2:c.12494A>G XP_006711873.1:p.Asn4165Ser
XM_006711802.3:c.12587A>G XP_006711865.1:p.Asn4196Ser
XM_006711803.3:c.12584A>G XP_006711866.1:p.Asn4195Ser
XM_006711804.3:c.12563A>G XP_006711867.1:p.Asn4188Ser
XM_006711805.3:c.12557A>G XP_006711868.1:p.Asn4186Ser
XM_006711806.3:c.12551A>G XP_006711869.1:p.Asn4184Ser
XM_006711807.3:c.12527A>G XP_006711870.1:p.Asn4176Ser
XM_006711808.3:c.12350A>G XP_006711871.1:p.Asn4117Ser
XM_006711810.3:c.12494A>G XP_006711873.1:p.Asn4165Ser
XM_017002028.1:c.12566A>G XP_016857517.1:p.Asn4189Ser
NM_001035.3:c.12533A>G MANE Select NP_001026.2:p.Asn4178Ser
Search 100 bp 5'
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