Canonical Allele Identifier: CA423821651

Gene: RYR2

Linked Data

• dbSNP Id: rs1252809808
• gnomAD v2: 1-237841400-G-A
• gnomAD v4: 1-237678100-G-A
• MyVariant Identifiers: chr1:g.237841400G>A (hg19) ; chr1:g.237678100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678100G>A , CM000663.2:g.237678100G>A	GRCh38
NC_000001.10:g.237841400G>A , CM000663.1:g.237841400G>A	GRCh37
NC_000001.9:g.235908023G>A	NCBI36
NG_008799.2:g.640699G>A
NG_008799.3:g.640917G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.8831-2356G>A	ENSP00000499659.2:n.8831-2356G>A
ENST00000659194.3:c.8883G>A	ENSP00000499653.3:p.Lys2961=
ENST00000660292.2:c.8883G>A	ENSP00000499787.2:p.Lys2961=
ENST00000659194.2:c.1072G>A
ENST00000366574.7:c.8883G>A MANE Select	ENSP00000355533.2:p.Lys2961=
ENST00000659194.1:c.1072G>A
ENST00000360064.7:c.8835G>A	ENSP00000353174.7:p.Lys2945=
ENST00000366574.6:c.8883G>A	ENSP00000355533.2:p.Lys2961=
ENST00000609119.1:n.84-2356G>A
NM_001035.2:c.8883G>A	NP_001026.2:p.Lys2961=
XM_006711802.2:c.8913G>A	XP_006711865.1:p.Lys2971=
XM_006711803.2:c.8910G>A	XP_006711866.1:p.Lys2970=
XM_006711804.2:c.8913G>A	XP_006711867.1:p.Lys2971=
XM_006711805.2:c.8883G>A	XP_006711868.1:p.Lys2961=
XM_006711806.2:c.8913G>A	XP_006711869.1:p.Lys2971=
XM_006711807.2:c.8913G>A	XP_006711870.1:p.Lys2971=
XM_006711808.2:c.8860+3254G>A	XP_006711871.1:n.8860+3254G>A
XM_006711810.2:c.8880G>A	XP_006711873.1:p.Lys2960=
XR_949152.1:n.9194G>A
XM_006711802.3:c.8913G>A	XP_006711865.1:p.Lys2971=
XM_006711803.3:c.8910G>A	XP_006711866.1:p.Lys2970=
XM_006711804.3:c.8913G>A	XP_006711867.1:p.Lys2971=
XM_006711805.3:c.8883G>A	XP_006711868.1:p.Lys2961=
XM_006711806.3:c.8913G>A	XP_006711869.1:p.Lys2971=
XM_006711807.3:c.8913G>A	XP_006711870.1:p.Lys2971=
XM_006711808.3:c.8860+3254G>A	XP_006711871.1:n.8860+3254G>A
XM_006711810.3:c.8880G>A	XP_006711873.1:p.Lys2960=
XM_017002028.1:c.8892G>A	XP_016857517.1:p.Lys2964=
XR_949152.2:n.9227G>A
NM_001035.3:c.8883G>A MANE Select	NP_001026.2:p.Lys2961=