Canonical Allele Identifier: CA345413504

Gene: RYR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3601G>A	ENSP00000499659.2:n.*3601G>A
ENST00000659194.3:c.12497G>A	ENSP00000499653.3:p.Arg4166Lys
ENST00000660292.2:c.12530G>A	ENSP00000499787.2:p.Arg4177Lys
ENST00000659194.2:c.4686G>A
ENST00000366574.7:c.12509G>A MANE Select	ENSP00000355533.2:p.Arg4170Lys
ENST00000659194.1:c.4686G>A
ENST00000660292.1:c.2562G>A
ENST00000360064.7:c.12461G>A	ENSP00000353174.7:p.Arg4154Lys
ENST00000366574.6:c.12509G>A	ENSP00000355533.2:p.Arg4170Lys
ENST00000609119.1:n.3704G>A
NM_001035.2:c.12509G>A	NP_001026.2:p.Arg4170Lys
XM_006711802.2:c.12563G>A	XP_006711865.1:p.Arg4188Lys
XM_006711803.2:c.12560G>A	XP_006711866.1:p.Arg4187Lys
XM_006711804.2:c.12539G>A	XP_006711867.1:p.Arg4180Lys
XM_006711805.2:c.12533G>A	XP_006711868.1:p.Arg4178Lys
XM_006711806.2:c.12527G>A	XP_006711869.1:p.Arg4176Lys
XM_006711807.2:c.12503G>A	XP_006711870.1:p.Arg4168Lys
XM_006711808.2:c.12326G>A	XP_006711871.1:p.Arg4109Lys
XM_006711810.2:c.12470G>A	XP_006711873.1:p.Arg4157Lys
XM_006711802.3:c.12563G>A	XP_006711865.1:p.Arg4188Lys
XM_006711803.3:c.12560G>A	XP_006711866.1:p.Arg4187Lys
XM_006711804.3:c.12539G>A	XP_006711867.1:p.Arg4180Lys
XM_006711805.3:c.12533G>A	XP_006711868.1:p.Arg4178Lys
XM_006711806.3:c.12527G>A	XP_006711869.1:p.Arg4176Lys
XM_006711807.3:c.12503G>A	XP_006711870.1:p.Arg4168Lys
XM_006711808.3:c.12326G>A	XP_006711871.1:p.Arg4109Lys
XM_006711810.3:c.12470G>A	XP_006711873.1:p.Arg4157Lys
XM_017002028.1:c.12542G>A	XP_016857517.1:p.Arg4181Lys
NM_001035.3:c.12509G>A MANE Select	NP_001026.2:p.Arg4170Lys