Canonical Allele Identifier: CA085044

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237773639G>A , CM000663.2:g.237773639G>A	GRCh38
NC_000001.10:g.237936939G>A , CM000663.1:g.237936939G>A	GRCh37
NC_000001.9:g.236003562G>A	NCBI36
NG_008799.2:g.736238G>A
NG_008799.3:g.736456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2858G>A	ENSP00000499659.2:n.*2858G>A
ENST00000659194.3:c.11754G>A	ENSP00000499653.3:p.Glu3918=
ENST00000660292.2:c.11787G>A	ENSP00000499787.2:p.Glu3929=
ENST00000659194.2:c.3943G>A
ENST00000366574.7:c.11766G>A MANE Select	ENSP00000355533.2:p.Glu3922=
ENST00000659194.1:c.3943G>A
ENST00000660292.1:c.1819G>A
ENST00000360064.7:c.11718G>A	ENSP00000353174.7:p.Glu3906=
ENST00000366574.6:c.11766G>A	ENSP00000355533.2:p.Glu3922=
ENST00000609119.1:n.2961G>A
NM_001035.2:c.11766G>A	NP_001026.2:p.Glu3922=
XM_006711802.2:c.11820G>A	XP_006711865.1:p.Glu3940=
XM_006711803.2:c.11817G>A	XP_006711866.1:p.Glu3939=
XM_006711804.2:c.11796G>A	XP_006711867.1:p.Glu3932=
XM_006711805.2:c.11790G>A	XP_006711868.1:p.Glu3930=
XM_006711806.2:c.11784G>A	XP_006711869.1:p.Glu3928=
XM_006711807.2:c.11760G>A	XP_006711870.1:p.Glu3920=
XM_006711808.2:c.11583G>A	XP_006711871.1:p.Glu3861=
XM_006711810.2:c.11727G>A	XP_006711873.1:p.Glu3909=
XM_006711802.3:c.11820G>A	XP_006711865.1:p.Glu3940=
XM_006711803.3:c.11817G>A	XP_006711866.1:p.Glu3939=
XM_006711804.3:c.11796G>A	XP_006711867.1:p.Glu3932=
XM_006711805.3:c.11790G>A	XP_006711868.1:p.Glu3930=
XM_006711806.3:c.11784G>A	XP_006711869.1:p.Glu3928=
XM_006711807.3:c.11760G>A	XP_006711870.1:p.Glu3920=
XM_006711808.3:c.11583G>A	XP_006711871.1:p.Glu3861=
XM_006711810.3:c.11727G>A	XP_006711873.1:p.Glu3909=
XM_017002028.1:c.11799G>A	XP_016857517.1:p.Glu3933=
NM_001035.3:c.11766G>A MANE Select	NP_001026.2:p.Glu3922=