Canonical Allele Identifier: CA16622167

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784180-C-A
• MyVariant Identifiers: chr1:g.237947480C>A (hg19) ; chr1:g.237784180C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784180C>A , CM000663.2:g.237784180C>A	GRCh38
NC_000001.10:g.237947480C>A , CM000663.1:g.237947480C>A	GRCh37
NC_000001.9:g.236014103C>A	NCBI36
NG_008799.2:g.746779C>A
NG_008799.3:g.746997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3560C>A	ENSP00000499659.2:n.*3560C>A
ENST00000659194.3:c.12456C>A	ENSP00000499653.3:p.Ser4152Arg
ENST00000660292.2:c.12489C>A	ENSP00000499787.2:p.Ser4163Arg
ENST00000659194.2:c.4645C>A
ENST00000366574.7:c.12468C>A MANE Select	ENSP00000355533.2:p.Ser4156Arg
ENST00000659194.1:c.4645C>A
ENST00000660292.1:c.2521C>A
ENST00000360064.7:c.12420C>A	ENSP00000353174.7:p.Ser4140Arg
ENST00000366574.6:c.12468C>A	ENSP00000355533.2:p.Ser4156Arg
ENST00000609119.1:n.3663C>A
NM_001035.2:c.12468C>A	NP_001026.2:p.Ser4156Arg
XM_006711802.2:c.12522C>A	XP_006711865.1:p.Ser4174Arg
XM_006711803.2:c.12519C>A	XP_006711866.1:p.Ser4173Arg
XM_006711804.2:c.12498C>A	XP_006711867.1:p.Ser4166Arg
XM_006711805.2:c.12492C>A	XP_006711868.1:p.Ser4164Arg
XM_006711806.2:c.12486C>A	XP_006711869.1:p.Ser4162Arg
XM_006711807.2:c.12462C>A	XP_006711870.1:p.Ser4154Arg
XM_006711808.2:c.12285C>A	XP_006711871.1:p.Ser4095Arg
XM_006711810.2:c.12429C>A	XP_006711873.1:p.Ser4143Arg
XM_006711802.3:c.12522C>A	XP_006711865.1:p.Ser4174Arg
XM_006711803.3:c.12519C>A	XP_006711866.1:p.Ser4173Arg
XM_006711804.3:c.12498C>A	XP_006711867.1:p.Ser4166Arg
XM_006711805.3:c.12492C>A	XP_006711868.1:p.Ser4164Arg
XM_006711806.3:c.12486C>A	XP_006711869.1:p.Ser4162Arg
XM_006711807.3:c.12462C>A	XP_006711870.1:p.Ser4154Arg
XM_006711808.3:c.12285C>A	XP_006711871.1:p.Ser4095Arg
XM_006711810.3:c.12429C>A	XP_006711873.1:p.Ser4143Arg
XM_017002028.1:c.12501C>A	XP_016857517.1:p.Ser4167Arg
NM_001035.3:c.12468C>A MANE Select	NP_001026.2:p.Ser4156Arg