Canonical Allele Identifier: CA345413431

Gene: RYR2

Linked Data

• COSMIC: COSM6125044 ; COSM6125045
• MyVariant Identifiers: chr1:g.237947492G>T (hg19) ; chr1:g.237784192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784192G>T , CM000663.2:g.237784192G>T	GRCh38
NC_000001.10:g.237947492G>T , CM000663.1:g.237947492G>T	GRCh37
NC_000001.9:g.236014115G>T	NCBI36
NG_008799.2:g.746791G>T
NG_008799.3:g.747009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3572G>T	ENSP00000499659.2:n.*3572G>T
ENST00000659194.3:c.12468G>T	ENSP00000499653.3:p.Trp4156Cys
ENST00000660292.2:c.12501G>T	ENSP00000499787.2:p.Trp4167Cys
ENST00000659194.2:c.4657G>T
ENST00000366574.7:c.12480G>T MANE Select	ENSP00000355533.2:p.Trp4160Cys
ENST00000659194.1:c.4657G>T
ENST00000660292.1:c.2533G>T
ENST00000360064.7:c.12432G>T	ENSP00000353174.7:p.Trp4144Cys
ENST00000366574.6:c.12480G>T	ENSP00000355533.2:p.Trp4160Cys
ENST00000609119.1:n.3675G>T
NM_001035.2:c.12480G>T	NP_001026.2:p.Trp4160Cys
XM_006711802.2:c.12534G>T	XP_006711865.1:p.Trp4178Cys
XM_006711803.2:c.12531G>T	XP_006711866.1:p.Trp4177Cys
XM_006711804.2:c.12510G>T	XP_006711867.1:p.Trp4170Cys
XM_006711805.2:c.12504G>T	XP_006711868.1:p.Trp4168Cys
XM_006711806.2:c.12498G>T	XP_006711869.1:p.Trp4166Cys
XM_006711807.2:c.12474G>T	XP_006711870.1:p.Trp4158Cys
XM_006711808.2:c.12297G>T	XP_006711871.1:p.Trp4099Cys
XM_006711810.2:c.12441G>T	XP_006711873.1:p.Trp4147Cys
XM_006711802.3:c.12534G>T	XP_006711865.1:p.Trp4178Cys
XM_006711803.3:c.12531G>T	XP_006711866.1:p.Trp4177Cys
XM_006711804.3:c.12510G>T	XP_006711867.1:p.Trp4170Cys
XM_006711805.3:c.12504G>T	XP_006711868.1:p.Trp4168Cys
XM_006711806.3:c.12498G>T	XP_006711869.1:p.Trp4166Cys
XM_006711807.3:c.12474G>T	XP_006711870.1:p.Trp4158Cys
XM_006711808.3:c.12297G>T	XP_006711871.1:p.Trp4099Cys
XM_006711810.3:c.12441G>T	XP_006711873.1:p.Trp4147Cys
XM_017002028.1:c.12513G>T	XP_016857517.1:p.Trp4171Cys
NM_001035.3:c.12480G>T MANE Select	NP_001026.2:p.Trp4160Cys