Canonical Allele Identifier: CA345406666

Gene: RYR2

Linked Data

• gnomAD v4: 1-237770830-G-A
• MyVariant Identifiers: chr1:g.237934130G>A (hg19) ; chr1:g.237770830G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770830G>A , CM000663.2:g.237770830G>A	GRCh38
NC_000001.10:g.237934130G>A , CM000663.1:g.237934130G>A	GRCh37
NC_000001.9:g.236000753G>A	NCBI36
NG_008799.2:g.733429G>A
NG_008799.3:g.733647G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2592G>A	ENSP00000499659.2:n.*2592G>A
ENST00000659194.3:c.11488G>A	ENSP00000499653.3:p.Glu3830Lys
ENST00000660292.2:c.11521G>A	ENSP00000499787.2:p.Glu3841Lys
ENST00000659194.2:c.3677G>A
ENST00000366574.7:c.11500G>A MANE Select	ENSP00000355533.2:p.Glu3834Lys
ENST00000659194.1:c.3677G>A
ENST00000660292.1:c.1553G>A
ENST00000360064.7:c.11452G>A	ENSP00000353174.7:p.Glu3818Lys
ENST00000366574.6:c.11500G>A	ENSP00000355533.2:p.Glu3834Lys
ENST00000609119.1:n.2695G>A
NM_001035.2:c.11500G>A	NP_001026.2:p.Glu3834Lys
XM_006711802.2:c.11554G>A	XP_006711865.1:p.Glu3852Lys
XM_006711803.2:c.11551G>A	XP_006711866.1:p.Glu3851Lys
XM_006711804.2:c.11530G>A	XP_006711867.1:p.Glu3844Lys
XM_006711805.2:c.11524G>A	XP_006711868.1:p.Glu3842Lys
XM_006711806.2:c.11518G>A	XP_006711869.1:p.Glu3840Lys
XM_006711807.2:c.11494G>A	XP_006711870.1:p.Glu3832Lys
XM_006711808.2:c.11317G>A	XP_006711871.1:p.Glu3773Lys
XM_006711810.2:c.11461G>A	XP_006711873.1:p.Glu3821Lys
XM_006711802.3:c.11554G>A	XP_006711865.1:p.Glu3852Lys
XM_006711803.3:c.11551G>A	XP_006711866.1:p.Glu3851Lys
XM_006711804.3:c.11530G>A	XP_006711867.1:p.Glu3844Lys
XM_006711805.3:c.11524G>A	XP_006711868.1:p.Glu3842Lys
XM_006711806.3:c.11518G>A	XP_006711869.1:p.Glu3840Lys
XM_006711807.3:c.11494G>A	XP_006711870.1:p.Glu3832Lys
XM_006711808.3:c.11317G>A	XP_006711871.1:p.Glu3773Lys
XM_006711810.3:c.11461G>A	XP_006711873.1:p.Glu3821Lys
XM_017002028.1:c.11533G>A	XP_016857517.1:p.Glu3845Lys
NM_001035.3:c.11500G>A MANE Select	NP_001026.2:p.Glu3834Lys