Canonical Allele Identifier: CA345413577

Gene: RYR2

Linked Data

• COSMIC: COSM6061856 ; COSM6061857
• MyVariant Identifiers: chr1:g.237947550G>T (hg19) ; chr1:g.237784250G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784250G>T , CM000663.2:g.237784250G>T	GRCh38
NC_000001.10:g.237947550G>T , CM000663.1:g.237947550G>T	GRCh37
NC_000001.9:g.236014173G>T	NCBI36
NG_008799.2:g.746849G>T
NG_008799.3:g.747067G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3630G>T	ENSP00000499659.2:n.*3630G>T
ENST00000659194.3:c.12526G>T	ENSP00000499653.3:p.Gly4176Cys
ENST00000660292.2:c.12559G>T	ENSP00000499787.2:p.Gly4187Cys
ENST00000659194.2:c.4715G>T
ENST00000366574.7:c.12538G>T MANE Select	ENSP00000355533.2:p.Gly4180Cys
ENST00000659194.1:c.4715G>T
ENST00000660292.1:c.2591G>T
ENST00000360064.7:c.12490G>T	ENSP00000353174.7:p.Gly4164Cys
ENST00000366574.6:c.12538G>T	ENSP00000355533.2:p.Gly4180Cys
ENST00000609119.1:n.3733G>T
NM_001035.2:c.12538G>T	NP_001026.2:p.Gly4180Cys
XM_006711802.2:c.12592G>T	XP_006711865.1:p.Gly4198Cys
XM_006711803.2:c.12589G>T	XP_006711866.1:p.Gly4197Cys
XM_006711804.2:c.12568G>T	XP_006711867.1:p.Gly4190Cys
XM_006711805.2:c.12562G>T	XP_006711868.1:p.Gly4188Cys
XM_006711806.2:c.12556G>T	XP_006711869.1:p.Gly4186Cys
XM_006711807.2:c.12532G>T	XP_006711870.1:p.Gly4178Cys
XM_006711808.2:c.12355G>T	XP_006711871.1:p.Gly4119Cys
XM_006711810.2:c.12499G>T	XP_006711873.1:p.Gly4167Cys
XM_006711802.3:c.12592G>T	XP_006711865.1:p.Gly4198Cys
XM_006711803.3:c.12589G>T	XP_006711866.1:p.Gly4197Cys
XM_006711804.3:c.12568G>T	XP_006711867.1:p.Gly4190Cys
XM_006711805.3:c.12562G>T	XP_006711868.1:p.Gly4188Cys
XM_006711806.3:c.12556G>T	XP_006711869.1:p.Gly4186Cys
XM_006711807.3:c.12532G>T	XP_006711870.1:p.Gly4178Cys
XM_006711808.3:c.12355G>T	XP_006711871.1:p.Gly4119Cys
XM_006711810.3:c.12499G>T	XP_006711873.1:p.Gly4167Cys
XM_017002028.1:c.12571G>T	XP_016857517.1:p.Gly4191Cys
NM_001035.3:c.12538G>T MANE Select	NP_001026.2:p.Gly4180Cys