Canonical Allele Identifier: CA345403530

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237841349T>A (hg19) ; chr1:g.237678049T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678049T>A , CM000663.2:g.237678049T>A	GRCh38
NC_000001.10:g.237841349T>A , CM000663.1:g.237841349T>A	GRCh37
NC_000001.9:g.235907972T>A	NCBI36
NG_008799.2:g.640648T>A
NG_008799.3:g.640866T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2407T>A	ENSP00000499659.2:n.8831-2407T>A
ENST00000659194.3:c.8832T>A	ENSP00000499653.3:p.Asp2944Glu
ENST00000660292.2:c.8832T>A	ENSP00000499787.2:p.Asp2944Glu
ENST00000659194.2:c.1021T>A
ENST00000366574.7:c.8832T>A MANE Select	ENSP00000355533.2:p.Asp2944Glu
ENST00000659194.1:c.1021T>A
ENST00000360064.7:c.8784T>A	ENSP00000353174.7:p.Asp2928Glu
ENST00000366574.6:c.8832T>A	ENSP00000355533.2:p.Asp2944Glu
ENST00000609119.1:n.84-2407T>A
NM_001035.2:c.8832T>A	NP_001026.2:p.Asp2944Glu
XM_006711802.2:c.8862T>A	XP_006711865.1:p.Asp2954Glu
XM_006711803.2:c.8859T>A	XP_006711866.1:p.Asp2953Glu
XM_006711804.2:c.8862T>A	XP_006711867.1:p.Asp2954Glu
XM_006711805.2:c.8832T>A	XP_006711868.1:p.Asp2944Glu
XM_006711806.2:c.8862T>A	XP_006711869.1:p.Asp2954Glu
XM_006711807.2:c.8862T>A	XP_006711870.1:p.Asp2954Glu
XM_006711808.2:c.8860+3203T>A	XP_006711871.1:n.8860+3203T>A
XM_006711810.2:c.8829T>A	XP_006711873.1:p.Asp2943Glu
XR_949152.1:n.9143T>A
XM_006711802.3:c.8862T>A	XP_006711865.1:p.Asp2954Glu
XM_006711803.3:c.8859T>A	XP_006711866.1:p.Asp2953Glu
XM_006711804.3:c.8862T>A	XP_006711867.1:p.Asp2954Glu
XM_006711805.3:c.8832T>A	XP_006711868.1:p.Asp2944Glu
XM_006711806.3:c.8862T>A	XP_006711869.1:p.Asp2954Glu
XM_006711807.3:c.8862T>A	XP_006711870.1:p.Asp2954Glu
XM_006711808.3:c.8860+3203T>A	XP_006711871.1:n.8860+3203T>A
XM_006711810.3:c.8829T>A	XP_006711873.1:p.Asp2943Glu
XM_017002028.1:c.8841T>A	XP_016857517.1:p.Asp2947Glu
XR_949152.2:n.9176T>A
NM_001035.3:c.8832T>A MANE Select	NP_001026.2:p.Asp2944Glu