Canonical Allele Identifier: CA345408698

Gene: RYR2

Linked Data

• ClinVar Variation Id: 518975
• ClinVar RCV Id: RCV000621125 ; RCV001179340 ; RCV001542518 ; RCV002477344 ; RCV002531756 ; RCV004002663
• dbSNP Id: rs1290534109
• gnomAD v2: 1-237870410-C-T
• gnomAD v4: 1-237707110-C-T
• MyVariant Identifiers: chr1:g.237870410C>T (hg19) ; chr1:g.237707110C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707110C>T , CM000663.2:g.237707110C>T	GRCh38
NC_000001.10:g.237870410C>T , CM000663.1:g.237870410C>T	GRCh37
NC_000001.9:g.235937033C>T	NCBI36
NG_008799.2:g.669709C>T
NG_008799.3:g.669927C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*777C>T	ENSP00000499659.2:n.*777C>T
ENST00000659194.3:c.9742C>T	ENSP00000499653.3:p.Arg3248Cys
ENST00000660292.2:c.9742C>T	ENSP00000499787.2:p.Arg3248Cys
ENST00000659194.2:c.1931C>T
ENST00000366574.7:c.9742C>T MANE Select	ENSP00000355533.2:p.Arg3248Cys
ENST00000659194.1:c.1931C>T
ENST00000360064.7:c.9694C>T	ENSP00000353174.7:p.Arg3232Cys
ENST00000366574.6:c.9742C>T	ENSP00000355533.2:p.Arg3248Cys
ENST00000609119.1:n.880C>T
NM_001035.2:c.9742C>T	NP_001026.2:p.Arg3248Cys
XM_006711802.2:c.9772C>T	XP_006711865.1:p.Arg3258Cys
XM_006711803.2:c.9769C>T	XP_006711866.1:p.Arg3257Cys
XM_006711804.2:c.9772C>T	XP_006711867.1:p.Arg3258Cys
XM_006711805.2:c.9742C>T	XP_006711868.1:p.Arg3248Cys
XM_006711806.2:c.9772C>T	XP_006711869.1:p.Arg3258Cys
XM_006711807.2:c.9772C>T	XP_006711870.1:p.Arg3258Cys
XM_006711808.2:c.9535C>T	XP_006711871.1:p.Arg3179Cys
XM_006711810.2:c.9739C>T	XP_006711873.1:p.Arg3247Cys
XM_006711802.3:c.9772C>T	XP_006711865.1:p.Arg3258Cys
XM_006711803.3:c.9769C>T	XP_006711866.1:p.Arg3257Cys
XM_006711804.3:c.9772C>T	XP_006711867.1:p.Arg3258Cys
XM_006711805.3:c.9742C>T	XP_006711868.1:p.Arg3248Cys
XM_006711806.3:c.9772C>T	XP_006711869.1:p.Arg3258Cys
XM_006711807.3:c.9772C>T	XP_006711870.1:p.Arg3258Cys
XM_006711808.3:c.9535C>T	XP_006711871.1:p.Arg3179Cys
XM_006711810.3:c.9739C>T	XP_006711873.1:p.Arg3247Cys
XM_017002028.1:c.9751C>T	XP_016857517.1:p.Arg3251Cys
NM_001035.3:c.9742C>T MANE Select	NP_001026.2:p.Arg3248Cys