Canonical Allele Identifier: CA345413506

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947521G>T (hg19) ; chr1:g.237784221G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784221G>T , CM000663.2:g.237784221G>T	GRCh38
NC_000001.10:g.237947521G>T , CM000663.1:g.237947521G>T	GRCh37
NC_000001.9:g.236014144G>T	NCBI36
NG_008799.2:g.746820G>T
NG_008799.3:g.747038G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3601G>T	ENSP00000499659.2:n.*3601G>T
ENST00000659194.3:c.12497G>T	ENSP00000499653.3:p.Arg4166Ile
ENST00000660292.2:c.12530G>T	ENSP00000499787.2:p.Arg4177Ile
ENST00000659194.2:c.4686G>T
ENST00000366574.7:c.12509G>T MANE Select	ENSP00000355533.2:p.Arg4170Ile
ENST00000659194.1:c.4686G>T
ENST00000660292.1:c.2562G>T
ENST00000360064.7:c.12461G>T	ENSP00000353174.7:p.Arg4154Ile
ENST00000366574.6:c.12509G>T	ENSP00000355533.2:p.Arg4170Ile
ENST00000609119.1:n.3704G>T
NM_001035.2:c.12509G>T	NP_001026.2:p.Arg4170Ile
XM_006711802.2:c.12563G>T	XP_006711865.1:p.Arg4188Ile
XM_006711803.2:c.12560G>T	XP_006711866.1:p.Arg4187Ile
XM_006711804.2:c.12539G>T	XP_006711867.1:p.Arg4180Ile
XM_006711805.2:c.12533G>T	XP_006711868.1:p.Arg4178Ile
XM_006711806.2:c.12527G>T	XP_006711869.1:p.Arg4176Ile
XM_006711807.2:c.12503G>T	XP_006711870.1:p.Arg4168Ile
XM_006711808.2:c.12326G>T	XP_006711871.1:p.Arg4109Ile
XM_006711810.2:c.12470G>T	XP_006711873.1:p.Arg4157Ile
XM_006711802.3:c.12563G>T	XP_006711865.1:p.Arg4188Ile
XM_006711803.3:c.12560G>T	XP_006711866.1:p.Arg4187Ile
XM_006711804.3:c.12539G>T	XP_006711867.1:p.Arg4180Ile
XM_006711805.3:c.12533G>T	XP_006711868.1:p.Arg4178Ile
XM_006711806.3:c.12527G>T	XP_006711869.1:p.Arg4176Ile
XM_006711807.3:c.12503G>T	XP_006711870.1:p.Arg4168Ile
XM_006711808.3:c.12326G>T	XP_006711871.1:p.Arg4109Ile
XM_006711810.3:c.12470G>T	XP_006711873.1:p.Arg4157Ile
XM_017002028.1:c.12542G>T	XP_016857517.1:p.Arg4181Ile
NM_001035.3:c.12509G>T MANE Select	NP_001026.2:p.Arg4170Ile