Canonical Allele Identifier: CA424032187

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947444C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784144C>T , CM000663.2:g.237784144C>T	GRCh38
NC_000001.10:g.237947444C>T , CM000663.1:g.237947444C>T	GRCh37
NC_000001.9:g.236014067C>T	NCBI36
NG_008799.2:g.746743C>T
NG_008799.3:g.746961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3524C>T	ENSP00000499659.2:n.*3524C>T
ENST00000659194.3:c.12420C>T	ENSP00000499653.3:p.Arg4140=
ENST00000660292.2:c.12453C>T	ENSP00000499787.2:p.Arg4151=
ENST00000659194.2:c.4609C>T
ENST00000366574.7:c.12432C>T MANE Select	ENSP00000355533.2:p.Arg4144=
ENST00000659194.1:c.4609C>T
ENST00000660292.1:c.2485C>T
ENST00000360064.7:c.12384C>T	ENSP00000353174.7:p.Arg4128=
ENST00000366574.6:c.12432C>T	ENSP00000355533.2:p.Arg4144=
ENST00000609119.1:n.3627C>T
NM_001035.2:c.12432C>T	NP_001026.2:p.Arg4144=
XM_006711802.2:c.12486C>T	XP_006711865.1:p.Arg4162=
XM_006711803.2:c.12483C>T	XP_006711866.1:p.Arg4161=
XM_006711804.2:c.12462C>T	XP_006711867.1:p.Arg4154=
XM_006711805.2:c.12456C>T	XP_006711868.1:p.Arg4152=
XM_006711806.2:c.12450C>T	XP_006711869.1:p.Arg4150=
XM_006711807.2:c.12426C>T	XP_006711870.1:p.Arg4142=
XM_006711808.2:c.12249C>T	XP_006711871.1:p.Arg4083=
XM_006711810.2:c.12393C>T	XP_006711873.1:p.Arg4131=
XM_006711802.3:c.12486C>T	XP_006711865.1:p.Arg4162=
XM_006711803.3:c.12483C>T	XP_006711866.1:p.Arg4161=
XM_006711804.3:c.12462C>T	XP_006711867.1:p.Arg4154=
XM_006711805.3:c.12456C>T	XP_006711868.1:p.Arg4152=
XM_006711806.3:c.12450C>T	XP_006711869.1:p.Arg4150=
XM_006711807.3:c.12426C>T	XP_006711870.1:p.Arg4142=
XM_006711808.3:c.12249C>T	XP_006711871.1:p.Arg4083=
XM_006711810.3:c.12393C>T	XP_006711873.1:p.Arg4131=
XM_017002028.1:c.12465C>T	XP_016857517.1:p.Arg4155=
NM_001035.3:c.12432C>T MANE Select	NP_001026.2:p.Arg4144=