Canonical Allele Identifier: CA2573132831

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1355377
• ClinVar RCV Id: RCV002545822
• dbSNP Id: rs2150028824

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417076_237417077delinsAA , CM000663.2:g.237417076_237417077delinsAA	GRCh38
NC_000001.10:g.237580376_237580377delinsAA , CM000663.1:g.237580376_237580377delinsAA	GRCh37
NC_000001.9:g.235646999_235647000delinsAA	NCBI36
NG_008799.2:g.379675_379676delinsAA
NG_008799.3:g.379893_379894delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.801_802delinsAA	ENSP00000499659.2:p.Ser268Thr
ENST00000659194.3:c.801_802delinsAA	ENSP00000499653.3:p.Ser268Thr
ENST00000660292.2:c.801_802delinsAA	ENSP00000499787.2:p.Ser268Thr
ENST00000366574.7:c.801_802delinsAA MANE Select	ENSP00000355533.2:p.Ser268Thr
ENST00000360064.7:c.753_754delinsAA	ENSP00000353174.7:p.Ser252Thr
ENST00000366574.6:c.801_802delinsAA	ENSP00000355533.2:p.Ser268Thr
NM_001035.2:c.801_802delinsAA	NP_001026.2:p.Ser268Thr
XM_006711802.2:c.801_802delinsAA	XP_006711865.1:p.Ser268Thr
XM_006711803.2:c.801_802delinsAA	XP_006711866.1:p.Ser268Thr
XM_006711804.2:c.801_802delinsAA	XP_006711867.1:p.Ser268Thr
XM_006711805.2:c.801_802delinsAA	XP_006711868.1:p.Ser268Thr
XM_006711806.2:c.801_802delinsAA	XP_006711869.1:p.Ser268Thr
XM_006711807.2:c.801_802delinsAA	XP_006711870.1:p.Ser268Thr
XM_006711808.2:c.801_802delinsAA	XP_006711871.1:p.Ser268Thr
XM_006711809.2:c.801_802delinsAA	XP_006711872.1:p.Ser268Thr
XM_006711810.2:c.801_802delinsAA	XP_006711873.1:p.Ser268Thr
XR_949152.1:n.1082_1083delinsAA
XM_006711802.3:c.801_802delinsAA	XP_006711865.1:p.Ser268Thr
XM_006711803.3:c.801_802delinsAA	XP_006711866.1:p.Ser268Thr
XM_006711804.3:c.801_802delinsAA	XP_006711867.1:p.Ser268Thr
XM_006711805.3:c.801_802delinsAA	XP_006711868.1:p.Ser268Thr
XM_006711806.3:c.801_802delinsAA	XP_006711869.1:p.Ser268Thr
XM_006711807.3:c.801_802delinsAA	XP_006711870.1:p.Ser268Thr
XM_006711808.3:c.801_802delinsAA	XP_006711871.1:p.Ser268Thr
XM_006711810.3:c.801_802delinsAA	XP_006711873.1:p.Ser268Thr
XM_017002028.1:c.780_781delinsAA	XP_016857517.1:p.Ser261Thr
XR_002957299.1:n.1115_1116delinsAA
XR_949152.2:n.1115_1116delinsAA
NM_001035.3:c.801_802delinsAA MANE Select	NP_001026.2:p.Ser268Thr