Canonical Allele Identifier: CA345413660

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947587T>A (hg19) ; chr1:g.237784287T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784287T>A , CM000663.2:g.237784287T>A	GRCh38
NC_000001.10:g.237947587T>A , CM000663.1:g.237947587T>A	GRCh37
NC_000001.9:g.236014210T>A	NCBI36
NG_008799.2:g.746886T>A
NG_008799.3:g.747104T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3667T>A	ENSP00000499659.2:n.*3667T>A
ENST00000659194.3:c.12563T>A	ENSP00000499653.3:p.Phe4188Tyr
ENST00000660292.2:c.12596T>A	ENSP00000499787.2:p.Phe4199Tyr
ENST00000659194.2:c.4752T>A
ENST00000366574.7:c.12575T>A MANE Select	ENSP00000355533.2:p.Phe4192Tyr
ENST00000659194.1:c.4752T>A
ENST00000660292.1:c.2628T>A
ENST00000360064.7:c.12527T>A	ENSP00000353174.7:p.Phe4176Tyr
ENST00000366574.6:c.12575T>A	ENSP00000355533.2:p.Phe4192Tyr
ENST00000609119.1:n.3770T>A
NM_001035.2:c.12575T>A	NP_001026.2:p.Phe4192Tyr
XM_006711802.2:c.12629T>A	XP_006711865.1:p.Phe4210Tyr
XM_006711803.2:c.12626T>A	XP_006711866.1:p.Phe4209Tyr
XM_006711804.2:c.12605T>A	XP_006711867.1:p.Phe4202Tyr
XM_006711805.2:c.12599T>A	XP_006711868.1:p.Phe4200Tyr
XM_006711806.2:c.12593T>A	XP_006711869.1:p.Phe4198Tyr
XM_006711807.2:c.12569T>A	XP_006711870.1:p.Phe4190Tyr
XM_006711808.2:c.12392T>A	XP_006711871.1:p.Phe4131Tyr
XM_006711810.2:c.12536T>A	XP_006711873.1:p.Phe4179Tyr
XM_006711802.3:c.12629T>A	XP_006711865.1:p.Phe4210Tyr
XM_006711803.3:c.12626T>A	XP_006711866.1:p.Phe4209Tyr
XM_006711804.3:c.12605T>A	XP_006711867.1:p.Phe4202Tyr
XM_006711805.3:c.12599T>A	XP_006711868.1:p.Phe4200Tyr
XM_006711806.3:c.12593T>A	XP_006711869.1:p.Phe4198Tyr
XM_006711807.3:c.12569T>A	XP_006711870.1:p.Phe4190Tyr
XM_006711808.3:c.12392T>A	XP_006711871.1:p.Phe4131Tyr
XM_006711810.3:c.12536T>A	XP_006711873.1:p.Phe4179Tyr
XM_017002028.1:c.12608T>A	XP_016857517.1:p.Phe4203Tyr
NM_001035.3:c.12575T>A MANE Select	NP_001026.2:p.Phe4192Tyr