Canonical Allele Identifier: CA424032108

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947654G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784354G>A , CM000663.2:g.237784354G>A	GRCh38
NC_000001.10:g.237947654G>A , CM000663.1:g.237947654G>A	GRCh37
NC_000001.9:g.236014277G>A	NCBI36
NG_008799.2:g.746953G>A
NG_008799.3:g.747171G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3734G>A	ENSP00000499659.2:n.*3734G>A
ENST00000659194.3:c.12630G>A	ENSP00000499653.3:p.Arg4210=
ENST00000660292.2:c.12663G>A	ENSP00000499787.2:p.Arg4221=
ENST00000659194.2:c.4819G>A
ENST00000366574.7:c.12642G>A MANE Select	ENSP00000355533.2:p.Arg4214=
ENST00000659194.1:c.4819G>A
ENST00000660292.1:c.2695G>A
ENST00000360064.7:c.12594G>A	ENSP00000353174.7:p.Arg4198=
ENST00000366574.6:c.12642G>A	ENSP00000355533.2:p.Arg4214=
ENST00000609119.1:n.3837G>A
NM_001035.2:c.12642G>A	NP_001026.2:p.Arg4214=
XM_006711802.2:c.12696G>A	XP_006711865.1:p.Arg4232=
XM_006711803.2:c.12693G>A	XP_006711866.1:p.Arg4231=
XM_006711804.2:c.12672G>A	XP_006711867.1:p.Arg4224=
XM_006711805.2:c.12666G>A	XP_006711868.1:p.Arg4222=
XM_006711806.2:c.12660G>A	XP_006711869.1:p.Arg4220=
XM_006711807.2:c.12636G>A	XP_006711870.1:p.Arg4212=
XM_006711808.2:c.12459G>A	XP_006711871.1:p.Arg4153=
XM_006711810.2:c.12603G>A	XP_006711873.1:p.Arg4201=
XM_006711802.3:c.12696G>A	XP_006711865.1:p.Arg4232=
XM_006711803.3:c.12693G>A	XP_006711866.1:p.Arg4231=
XM_006711804.3:c.12672G>A	XP_006711867.1:p.Arg4224=
XM_006711805.3:c.12666G>A	XP_006711868.1:p.Arg4222=
XM_006711806.3:c.12660G>A	XP_006711869.1:p.Arg4220=
XM_006711807.3:c.12636G>A	XP_006711870.1:p.Arg4212=
XM_006711808.3:c.12459G>A	XP_006711871.1:p.Arg4153=
XM_006711810.3:c.12603G>A	XP_006711873.1:p.Arg4201=
XM_017002028.1:c.12675G>A	XP_016857517.1:p.Arg4225=
NM_001035.3:c.12642G>A MANE Select	NP_001026.2:p.Arg4214=