Canonical Allele Identifier: CA007463
Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12956
ClinVar RCV Id: RCV000013822
dbSNP Id: rs121918599

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.237784024C>G , CM000663.2:g.237784024C>G GRCh38
NC_000001.10:g.237947324C>G , CM000663.1:g.237947324C>G GRCh37
NC_000001.9:g.236013947C>G NCBI36
NG_008799.2:g.746623C>G
NG_008799.3:g.746841C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609119.2:c.*3404C>G ENSP00000499659.2:n.*3404C>G
ENST00000659194.3:c.12300C>G ENSP00000499653.3:p.Asn4100Lys
ENST00000660292.2:c.12333C>G ENSP00000499787.2:p.Asn4111Lys
ENST00000659194.2:c.4489C>G
ENST00000366574.7:c.12312C>G MANE Select ENSP00000355533.2:p.Asn4104Lys
ENST00000659194.1:c.4489C>G
ENST00000660292.1:c.2365C>G
ENST00000360064.7:c.12264C>G ENSP00000353174.7:p.Asn4088Lys
ENST00000366574.6:c.12312C>G ENSP00000355533.2:p.Asn4104Lys
ENST00000609119.1:n.3507C>G
NM_001035.2:c.12312C>G NP_001026.2:p.Asn4104Lys
XM_006711802.2:c.12366C>G XP_006711865.1:p.Asn4122Lys
XM_006711803.2:c.12363C>G XP_006711866.1:p.Asn4121Lys
XM_006711804.2:c.12342C>G XP_006711867.1:p.Asn4114Lys
XM_006711805.2:c.12336C>G XP_006711868.1:p.Asn4112Lys
XM_006711806.2:c.12330C>G XP_006711869.1:p.Asn4110Lys
XM_006711807.2:c.12306C>G XP_006711870.1:p.Asn4102Lys
XM_006711808.2:c.12129C>G XP_006711871.1:p.Asn4043Lys
XM_006711810.2:c.12273C>G XP_006711873.1:p.Asn4091Lys
XM_006711802.3:c.12366C>G XP_006711865.1:p.Asn4122Lys
XM_006711803.3:c.12363C>G XP_006711866.1:p.Asn4121Lys
XM_006711804.3:c.12342C>G XP_006711867.1:p.Asn4114Lys
XM_006711805.3:c.12336C>G XP_006711868.1:p.Asn4112Lys
XM_006711806.3:c.12330C>G XP_006711869.1:p.Asn4110Lys
XM_006711807.3:c.12306C>G XP_006711870.1:p.Asn4102Lys
XM_006711808.3:c.12129C>G XP_006711871.1:p.Asn4043Lys
XM_006711810.3:c.12273C>G XP_006711873.1:p.Asn4091Lys
XM_017002028.1:c.12345C>G XP_016857517.1:p.Asn4115Lys
NM_001035.3:c.12312C>G MANE Select NP_001026.2:p.Asn4104Lys