Canonical Allele Identifier: CA345406694

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237934141T>A (hg19) ; chr1:g.237770841T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770841T>A , CM000663.2:g.237770841T>A	GRCh38
NC_000001.10:g.237934141T>A , CM000663.1:g.237934141T>A	GRCh37
NC_000001.9:g.236000764T>A	NCBI36
NG_008799.2:g.733440T>A
NG_008799.3:g.733658T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2603T>A	ENSP00000499659.2:n.*2603T>A
ENST00000659194.3:c.11499T>A	ENSP00000499653.3:p.Cys3833Ter
ENST00000660292.2:c.11532T>A	ENSP00000499787.2:p.Cys3844Ter
ENST00000659194.2:c.3688T>A
ENST00000366574.7:c.11511T>A MANE Select	ENSP00000355533.2:p.Cys3837Ter
ENST00000659194.1:c.3688T>A
ENST00000660292.1:c.1564T>A
ENST00000360064.7:c.11463T>A	ENSP00000353174.7:p.Cys3821Ter
ENST00000366574.6:c.11511T>A	ENSP00000355533.2:p.Cys3837Ter
ENST00000609119.1:n.2706T>A
NM_001035.2:c.11511T>A	NP_001026.2:p.Cys3837Ter
XM_006711802.2:c.11565T>A	XP_006711865.1:p.Cys3855Ter
XM_006711803.2:c.11562T>A	XP_006711866.1:p.Cys3854Ter
XM_006711804.2:c.11541T>A	XP_006711867.1:p.Cys3847Ter
XM_006711805.2:c.11535T>A	XP_006711868.1:p.Cys3845Ter
XM_006711806.2:c.11529T>A	XP_006711869.1:p.Cys3843Ter
XM_006711807.2:c.11505T>A	XP_006711870.1:p.Cys3835Ter
XM_006711808.2:c.11328T>A	XP_006711871.1:p.Cys3776Ter
XM_006711810.2:c.11472T>A	XP_006711873.1:p.Cys3824Ter
XM_006711802.3:c.11565T>A	XP_006711865.1:p.Cys3855Ter
XM_006711803.3:c.11562T>A	XP_006711866.1:p.Cys3854Ter
XM_006711804.3:c.11541T>A	XP_006711867.1:p.Cys3847Ter
XM_006711805.3:c.11535T>A	XP_006711868.1:p.Cys3845Ter
XM_006711806.3:c.11529T>A	XP_006711869.1:p.Cys3843Ter
XM_006711807.3:c.11505T>A	XP_006711870.1:p.Cys3835Ter
XM_006711808.3:c.11328T>A	XP_006711871.1:p.Cys3776Ter
XM_006711810.3:c.11472T>A	XP_006711873.1:p.Cys3824Ter
XM_017002028.1:c.11544T>A	XP_016857517.1:p.Cys3848Ter
NM_001035.3:c.11511T>A MANE Select	NP_001026.2:p.Cys3837Ter