Canonical Allele Identifier: CA008287

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819086G>T , CM000663.2:g.237819086G>T	GRCh38
NC_000001.10:g.237982386G>T , CM000663.1:g.237982386G>T	GRCh37
NC_000001.9:g.236049009G>T	NCBI36
NG_008799.2:g.781685G>T
NG_008799.3:g.781903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5576G>T	ENSP00000499659.2:n.*5576G>T
ENST00000659194.3:c.14466G>T	ENSP00000499653.3:p.Gly4822=
ENST00000660292.2:c.14505G>T	ENSP00000499787.2:p.Gly4835=
ENST00000659194.2:c.6655G>T
ENST00000366574.7:c.14484G>T MANE Select	ENSP00000355533.2:p.Gly4828=
ENST00000360064.7:c.14433G>T	ENSP00000353174.7:p.Gly4811=
ENST00000366574.6:c.14484G>T	ENSP00000355533.2:p.Gly4828=
ENST00000608590.5:n.995G>T
NM_001035.2:c.14484G>T	NP_001026.2:p.Gly4828=
XM_006711802.2:c.14538G>T	XP_006711865.1:p.Gly4846=
XM_006711803.2:c.14535G>T	XP_006711866.1:p.Gly4845=
XM_006711804.2:c.14514G>T	XP_006711867.1:p.Gly4838=
XM_006711805.2:c.14508G>T	XP_006711868.1:p.Gly4836=
XM_006711806.2:c.14502G>T	XP_006711869.1:p.Gly4834=
XM_006711807.2:c.14478G>T	XP_006711870.1:p.Gly4826=
XM_006711808.2:c.14301G>T	XP_006711871.1:p.Gly4767=
XM_006711810.2:c.14445G>T	XP_006711873.1:p.Gly4815=
XM_006711802.3:c.14538G>T	XP_006711865.1:p.Gly4846=
XM_006711803.3:c.14535G>T	XP_006711866.1:p.Gly4845=
XM_006711804.3:c.14514G>T	XP_006711867.1:p.Gly4838=
XM_006711805.3:c.14508G>T	XP_006711868.1:p.Gly4836=
XM_006711806.3:c.14502G>T	XP_006711869.1:p.Gly4834=
XM_006711807.3:c.14478G>T	XP_006711870.1:p.Gly4826=
XM_006711808.3:c.14301G>T	XP_006711871.1:p.Gly4767=
XM_006711810.3:c.14445G>T	XP_006711873.1:p.Gly4815=
XM_017002028.1:c.14517G>T	XP_016857517.1:p.Gly4839=
NM_001035.3:c.14484G>T MANE Select	NP_001026.2:p.Gly4828=