Canonical Allele Identifier: CA424051752

Gene: RYR2

Linked Data

• gnomAD v4: 1-237809026-T-C
• COSMIC: COSM6125010 ; COSM6125011
• MyVariant Identifiers: chr1:g.237972326T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809026T>C , CM000663.2:g.237809026T>C	GRCh38
NC_000001.10:g.237972326T>C , CM000663.1:g.237972326T>C	GRCh37
NC_000001.9:g.236038949T>C	NCBI36
NG_008799.2:g.771625T>C
NG_008799.3:g.771843T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5516T>C	ENSP00000499659.2:n.*5516T>C
ENST00000659194.3:c.14406T>C	ENSP00000499653.3:p.Asp4802=
ENST00000660292.2:c.14445T>C	ENSP00000499787.2:p.Asp4815=
ENST00000659194.2:c.6595T>C
ENST00000366574.7:c.14424T>C MANE Select	ENSP00000355533.2:p.Asp4808=
ENST00000360064.7:c.14373T>C	ENSP00000353174.7:p.Asp4791=
ENST00000366574.6:c.14424T>C	ENSP00000355533.2:p.Asp4808=
ENST00000608590.5:n.935T>C
NM_001035.2:c.14424T>C	NP_001026.2:p.Asp4808=
XM_006711802.2:c.14478T>C	XP_006711865.1:p.Asp4826=
XM_006711803.2:c.14475T>C	XP_006711866.1:p.Asp4825=
XM_006711804.2:c.14454T>C	XP_006711867.1:p.Asp4818=
XM_006711805.2:c.14448T>C	XP_006711868.1:p.Asp4816=
XM_006711806.2:c.14442T>C	XP_006711869.1:p.Asp4814=
XM_006711807.2:c.14418T>C	XP_006711870.1:p.Asp4806=
XM_006711808.2:c.14241T>C	XP_006711871.1:p.Asp4747=
XM_006711810.2:c.14385T>C	XP_006711873.1:p.Asp4795=
XM_006711802.3:c.14478T>C	XP_006711865.1:p.Asp4826=
XM_006711803.3:c.14475T>C	XP_006711866.1:p.Asp4825=
XM_006711804.3:c.14454T>C	XP_006711867.1:p.Asp4818=
XM_006711805.3:c.14448T>C	XP_006711868.1:p.Asp4816=
XM_006711806.3:c.14442T>C	XP_006711869.1:p.Asp4814=
XM_006711807.3:c.14418T>C	XP_006711870.1:p.Asp4806=
XM_006711808.3:c.14241T>C	XP_006711871.1:p.Asp4747=
XM_006711810.3:c.14385T>C	XP_006711873.1:p.Asp4795=
XM_017002028.1:c.14457T>C	XP_016857517.1:p.Asp4819=
NM_001035.3:c.14424T>C MANE Select	NP_001026.2:p.Asp4808=