Canonical Allele Identifier: CA424032211

Gene: RYR2

Linked Data

• COSMIC: COSM5805633 ; COSM5805634
• MyVariant Identifiers: chr1:g.237947468C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784168C>A , CM000663.2:g.237784168C>A	GRCh38
NC_000001.10:g.237947468C>A , CM000663.1:g.237947468C>A	GRCh37
NC_000001.9:g.236014091C>A	NCBI36
NG_008799.2:g.746767C>A
NG_008799.3:g.746985C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3548C>A	ENSP00000499659.2:n.*3548C>A
ENST00000659194.3:c.12444C>A	ENSP00000499653.3:p.Ile4148=
ENST00000660292.2:c.12477C>A	ENSP00000499787.2:p.Ile4159=
ENST00000659194.2:c.4633C>A
ENST00000366574.7:c.12456C>A MANE Select	ENSP00000355533.2:p.Ile4152=
ENST00000659194.1:c.4633C>A
ENST00000660292.1:c.2509C>A
ENST00000360064.7:c.12408C>A	ENSP00000353174.7:p.Ile4136=
ENST00000366574.6:c.12456C>A	ENSP00000355533.2:p.Ile4152=
ENST00000609119.1:n.3651C>A
NM_001035.2:c.12456C>A	NP_001026.2:p.Ile4152=
XM_006711802.2:c.12510C>A	XP_006711865.1:p.Ile4170=
XM_006711803.2:c.12507C>A	XP_006711866.1:p.Ile4169=
XM_006711804.2:c.12486C>A	XP_006711867.1:p.Ile4162=
XM_006711805.2:c.12480C>A	XP_006711868.1:p.Ile4160=
XM_006711806.2:c.12474C>A	XP_006711869.1:p.Ile4158=
XM_006711807.2:c.12450C>A	XP_006711870.1:p.Ile4150=
XM_006711808.2:c.12273C>A	XP_006711871.1:p.Ile4091=
XM_006711810.2:c.12417C>A	XP_006711873.1:p.Ile4139=
XM_006711802.3:c.12510C>A	XP_006711865.1:p.Ile4170=
XM_006711803.3:c.12507C>A	XP_006711866.1:p.Ile4169=
XM_006711804.3:c.12486C>A	XP_006711867.1:p.Ile4162=
XM_006711805.3:c.12480C>A	XP_006711868.1:p.Ile4160=
XM_006711806.3:c.12474C>A	XP_006711869.1:p.Ile4158=
XM_006711807.3:c.12450C>A	XP_006711870.1:p.Ile4150=
XM_006711808.3:c.12273C>A	XP_006711871.1:p.Ile4091=
XM_006711810.3:c.12417C>A	XP_006711873.1:p.Ile4139=
XM_017002028.1:c.12489C>A	XP_016857517.1:p.Ile4163=
NM_001035.3:c.12456C>A MANE Select	NP_001026.2:p.Ile4152=