Canonical Allele Identifier: CA424032321

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947576C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784276C>G , CM000663.2:g.237784276C>G	GRCh38
NC_000001.10:g.237947576C>G , CM000663.1:g.237947576C>G	GRCh37
NC_000001.9:g.236014199C>G	NCBI36
NG_008799.2:g.746875C>G
NG_008799.3:g.747093C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3656C>G	ENSP00000499659.2:n.*3656C>G
ENST00000659194.3:c.12552C>G	ENSP00000499653.3:p.Leu4184=
ENST00000660292.2:c.12585C>G	ENSP00000499787.2:p.Leu4195=
ENST00000659194.2:c.4741C>G
ENST00000366574.7:c.12564C>G MANE Select	ENSP00000355533.2:p.Leu4188=
ENST00000659194.1:c.4741C>G
ENST00000660292.1:c.2617C>G
ENST00000360064.7:c.12516C>G	ENSP00000353174.7:p.Leu4172=
ENST00000366574.6:c.12564C>G	ENSP00000355533.2:p.Leu4188=
ENST00000609119.1:n.3759C>G
NM_001035.2:c.12564C>G	NP_001026.2:p.Leu4188=
XM_006711802.2:c.12618C>G	XP_006711865.1:p.Leu4206=
XM_006711803.2:c.12615C>G	XP_006711866.1:p.Leu4205=
XM_006711804.2:c.12594C>G	XP_006711867.1:p.Leu4198=
XM_006711805.2:c.12588C>G	XP_006711868.1:p.Leu4196=
XM_006711806.2:c.12582C>G	XP_006711869.1:p.Leu4194=
XM_006711807.2:c.12558C>G	XP_006711870.1:p.Leu4186=
XM_006711808.2:c.12381C>G	XP_006711871.1:p.Leu4127=
XM_006711810.2:c.12525C>G	XP_006711873.1:p.Leu4175=
XM_006711802.3:c.12618C>G	XP_006711865.1:p.Leu4206=
XM_006711803.3:c.12615C>G	XP_006711866.1:p.Leu4205=
XM_006711804.3:c.12594C>G	XP_006711867.1:p.Leu4198=
XM_006711805.3:c.12588C>G	XP_006711868.1:p.Leu4196=
XM_006711806.3:c.12582C>G	XP_006711869.1:p.Leu4194=
XM_006711807.3:c.12558C>G	XP_006711870.1:p.Leu4186=
XM_006711808.3:c.12381C>G	XP_006711871.1:p.Leu4127=
XM_006711810.3:c.12525C>G	XP_006711873.1:p.Leu4175=
XM_017002028.1:c.12597C>G	XP_016857517.1:p.Leu4199=
NM_001035.3:c.12564C>G MANE Select	NP_001026.2:p.Leu4188=