Canonical Allele Identifier: CA087081

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2894553
• ClinVar RCV Id: RCV003638531
• dbSNP Id: rs773022685
• ExAC: 1:237791185 G / A
• gnomAD v2: 1-237791185-G-A
• MyVariant Identifiers: chr1:g.237791185G>A (hg19) ; chr1:g.237627885G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627885G>A , CM000663.2:g.237627885G>A	GRCh38
NC_000001.10:g.237791185G>A , CM000663.1:g.237791185G>A	GRCh37
NC_000001.9:g.235857808G>A	NCBI36
NG_008799.2:g.590484G>A
NG_008799.3:g.590702G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.6245G>A	ENSP00000499659.2:p.Arg2082Lys
ENST00000659194.3:c.6245G>A	ENSP00000499653.3:p.Arg2082Lys
ENST00000660292.2:c.6245G>A	ENSP00000499787.2:p.Arg2082Lys
ENST00000366574.7:c.6245G>A MANE Select	ENSP00000355533.2:p.Arg2082Lys
ENST00000360064.7:c.6197G>A	ENSP00000353174.7:p.Arg2066Lys
ENST00000366574.6:c.6245G>A	ENSP00000355533.2:p.Arg2082Lys
NM_001035.2:c.6245G>A	NP_001026.2:p.Arg2082Lys
XM_006711802.2:c.6275G>A	XP_006711865.1:p.Arg2092Lys
XM_006711803.2:c.6272G>A	XP_006711866.1:p.Arg2091Lys
XM_006711804.2:c.6275G>A	XP_006711867.1:p.Arg2092Lys
XM_006711805.2:c.6245G>A	XP_006711868.1:p.Arg2082Lys
XM_006711806.2:c.6275G>A	XP_006711869.1:p.Arg2092Lys
XM_006711807.2:c.6275G>A	XP_006711870.1:p.Arg2092Lys
XM_006711808.2:c.6275G>A	XP_006711871.1:p.Arg2092Lys
XM_006711809.2:c.6275G>A	XP_006711872.1:p.Arg2092Lys
XM_006711810.2:c.6242G>A	XP_006711873.1:p.Arg2081Lys
XR_949152.1:n.6556G>A
XM_006711802.3:c.6275G>A	XP_006711865.1:p.Arg2092Lys
XM_006711803.3:c.6272G>A	XP_006711866.1:p.Arg2091Lys
XM_006711804.3:c.6275G>A	XP_006711867.1:p.Arg2092Lys
XM_006711805.3:c.6245G>A	XP_006711868.1:p.Arg2082Lys
XM_006711806.3:c.6275G>A	XP_006711869.1:p.Arg2092Lys
XM_006711807.3:c.6275G>A	XP_006711870.1:p.Arg2092Lys
XM_006711808.3:c.6275G>A	XP_006711871.1:p.Arg2092Lys
XM_006711810.3:c.6242G>A	XP_006711873.1:p.Arg2081Lys
XM_017002028.1:c.6254G>A	XP_016857517.1:p.Arg2085Lys
XR_002957299.1:n.6589G>A
XR_949152.2:n.6589G>A
NM_001035.3:c.6245G>A MANE Select	NP_001026.2:p.Arg2082Lys