Canonical Allele Identifier: CA645514118

Gene: RYR2

Linked Data

• COSMIC: COSM331185

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627908_237627909delinsTC , CM000663.2:g.237627908_237627909delinsTC	GRCh38
NC_000001.10:g.237791208_237791209delinsTC , CM000663.1:g.237791208_237791209delinsTC	GRCh37
NC_000001.9:g.235857831_235857832delinsTC	NCBI36
NG_008799.2:g.590507_590508delinsTC
NG_008799.3:g.590725_590726delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6268_6269delinsTC	ENSP00000499659.2:p.Arg2090Ser
ENST00000659194.3:c.6268_6269delinsTC	ENSP00000499653.3:p.Arg2090Ser
ENST00000660292.2:c.6268_6269delinsTC	ENSP00000499787.2:p.Arg2090Ser
ENST00000366574.7:c.6268_6269delinsTC MANE Select	ENSP00000355533.2:p.Arg2090Ser
ENST00000360064.7:c.6220_6221delinsTC	ENSP00000353174.7:p.Arg2074Ser
ENST00000366574.6:c.6268_6269delinsTC	ENSP00000355533.2:p.Arg2090Ser
NM_001035.2:c.6268_6269delinsTC	NP_001026.2:p.Arg2090Ser
XM_006711802.2:c.6298_6299delinsTC	XP_006711865.1:p.Arg2100Ser
XM_006711803.2:c.6295_6296delinsTC	XP_006711866.1:p.Arg2099Ser
XM_006711804.2:c.6298_6299delinsTC	XP_006711867.1:p.Arg2100Ser
XM_006711805.2:c.6268_6269delinsTC	XP_006711868.1:p.Arg2090Ser
XM_006711806.2:c.6298_6299delinsTC	XP_006711869.1:p.Arg2100Ser
XM_006711807.2:c.6298_6299delinsTC	XP_006711870.1:p.Arg2100Ser
XM_006711808.2:c.6298_6299delinsTC	XP_006711871.1:p.Arg2100Ser
XM_006711809.2:c.6298_6299delinsTC	XP_006711872.1:p.Arg2100Ser
XM_006711810.2:c.6265_6266delinsTC	XP_006711873.1:p.Arg2089Ser
XR_949152.1:n.6579_6580delinsTC
XM_006711802.3:c.6298_6299delinsTC	XP_006711865.1:p.Arg2100Ser
XM_006711803.3:c.6295_6296delinsTC	XP_006711866.1:p.Arg2099Ser
XM_006711804.3:c.6298_6299delinsTC	XP_006711867.1:p.Arg2100Ser
XM_006711805.3:c.6268_6269delinsTC	XP_006711868.1:p.Arg2090Ser
XM_006711806.3:c.6298_6299delinsTC	XP_006711869.1:p.Arg2100Ser
XM_006711807.3:c.6298_6299delinsTC	XP_006711870.1:p.Arg2100Ser
XM_006711808.3:c.6298_6299delinsTC	XP_006711871.1:p.Arg2100Ser
XM_006711810.3:c.6265_6266delinsTC	XP_006711873.1:p.Arg2089Ser
XM_017002028.1:c.6277_6278delinsTC	XP_016857517.1:p.Arg2093Ser
XR_002957299.1:n.6612_6613delinsTC
XR_949152.2:n.6612_6613delinsTC
NM_001035.3:c.6268_6269delinsTC MANE Select	NP_001026.2:p.Arg2090Ser