Canonical Allele Identifier: CA424032150

Gene: RYR2

Linked Data

• dbSNP Id: rs1294331175
• gnomAD v2: 1-237947420-C-A
• gnomAD v4: 1-237784120-C-A
• MyVariant Identifiers: chr1:g.237947420C>A (hg19) ; chr1:g.237784120C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784120C>A , CM000663.2:g.237784120C>A	GRCh38
NC_000001.10:g.237947420C>A , CM000663.1:g.237947420C>A	GRCh37
NC_000001.9:g.236014043C>A	NCBI36
NG_008799.2:g.746719C>A
NG_008799.3:g.746937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3500C>A	ENSP00000499659.2:n.*3500C>A
ENST00000659194.3:c.12396C>A	ENSP00000499653.3:p.Ile4132=
ENST00000660292.2:c.12429C>A	ENSP00000499787.2:p.Ile4143=
ENST00000659194.2:c.4585C>A
ENST00000366574.7:c.12408C>A MANE Select	ENSP00000355533.2:p.Ile4136=
ENST00000659194.1:c.4585C>A
ENST00000660292.1:c.2461C>A
ENST00000360064.7:c.12360C>A	ENSP00000353174.7:p.Ile4120=
ENST00000366574.6:c.12408C>A	ENSP00000355533.2:p.Ile4136=
ENST00000609119.1:n.3603C>A
NM_001035.2:c.12408C>A	NP_001026.2:p.Ile4136=
XM_006711802.2:c.12462C>A	XP_006711865.1:p.Ile4154=
XM_006711803.2:c.12459C>A	XP_006711866.1:p.Ile4153=
XM_006711804.2:c.12438C>A	XP_006711867.1:p.Ile4146=
XM_006711805.2:c.12432C>A	XP_006711868.1:p.Ile4144=
XM_006711806.2:c.12426C>A	XP_006711869.1:p.Ile4142=
XM_006711807.2:c.12402C>A	XP_006711870.1:p.Ile4134=
XM_006711808.2:c.12225C>A	XP_006711871.1:p.Ile4075=
XM_006711810.2:c.12369C>A	XP_006711873.1:p.Ile4123=
XM_006711802.3:c.12462C>A	XP_006711865.1:p.Ile4154=
XM_006711803.3:c.12459C>A	XP_006711866.1:p.Ile4153=
XM_006711804.3:c.12438C>A	XP_006711867.1:p.Ile4146=
XM_006711805.3:c.12432C>A	XP_006711868.1:p.Ile4144=
XM_006711806.3:c.12426C>A	XP_006711869.1:p.Ile4142=
XM_006711807.3:c.12402C>A	XP_006711870.1:p.Ile4134=
XM_006711808.3:c.12225C>A	XP_006711871.1:p.Ile4075=
XM_006711810.3:c.12369C>A	XP_006711873.1:p.Ile4123=
XM_017002028.1:c.12441C>A	XP_016857517.1:p.Ile4147=
NM_001035.3:c.12408C>A MANE Select	NP_001026.2:p.Ile4136=