Canonical Allele Identifier: CA424032224

Gene: RYR2

Linked Data

• ClinVar Variation Id: 920065
• ClinVar RCV Id: RCV001178604
• dbSNP Id: rs1247580708
• gnomAD v4: 1-237784181-C-A
• MyVariant Identifiers: chr1:g.237947481C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784181C>A , CM000663.2:g.237784181C>A	GRCh38
NC_000001.10:g.237947481C>A , CM000663.1:g.237947481C>A	GRCh37
NC_000001.9:g.236014104C>A	NCBI36
NG_008799.2:g.746780C>A
NG_008799.3:g.746998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3561C>A	ENSP00000499659.2:n.*3561C>A
ENST00000659194.3:c.12457C>A	ENSP00000499653.3:p.Arg4153=
ENST00000660292.2:c.12490C>A	ENSP00000499787.2:p.Arg4164=
ENST00000659194.2:c.4646C>A
ENST00000366574.7:c.12469C>A MANE Select	ENSP00000355533.2:p.Arg4157=
ENST00000659194.1:c.4646C>A
ENST00000660292.1:c.2522C>A
ENST00000360064.7:c.12421C>A	ENSP00000353174.7:p.Arg4141=
ENST00000366574.6:c.12469C>A	ENSP00000355533.2:p.Arg4157=
ENST00000609119.1:n.3664C>A
NM_001035.2:c.12469C>A	NP_001026.2:p.Arg4157=
XM_006711802.2:c.12523C>A	XP_006711865.1:p.Arg4175=
XM_006711803.2:c.12520C>A	XP_006711866.1:p.Arg4174=
XM_006711804.2:c.12499C>A	XP_006711867.1:p.Arg4167=
XM_006711805.2:c.12493C>A	XP_006711868.1:p.Arg4165=
XM_006711806.2:c.12487C>A	XP_006711869.1:p.Arg4163=
XM_006711807.2:c.12463C>A	XP_006711870.1:p.Arg4155=
XM_006711808.2:c.12286C>A	XP_006711871.1:p.Arg4096=
XM_006711810.2:c.12430C>A	XP_006711873.1:p.Arg4144=
XM_006711802.3:c.12523C>A	XP_006711865.1:p.Arg4175=
XM_006711803.3:c.12520C>A	XP_006711866.1:p.Arg4174=
XM_006711804.3:c.12499C>A	XP_006711867.1:p.Arg4167=
XM_006711805.3:c.12493C>A	XP_006711868.1:p.Arg4165=
XM_006711806.3:c.12487C>A	XP_006711869.1:p.Arg4163=
XM_006711807.3:c.12463C>A	XP_006711870.1:p.Arg4155=
XM_006711808.3:c.12286C>A	XP_006711871.1:p.Arg4096=
XM_006711810.3:c.12430C>A	XP_006711873.1:p.Arg4144=
XM_017002028.1:c.12502C>A	XP_016857517.1:p.Arg4168=
NM_001035.3:c.12469C>A MANE Select	NP_001026.2:p.Arg4157=