Canonical Allele Identifier: CA424051753

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972330C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809030C>T , CM000663.2:g.237809030C>T	GRCh38
NC_000001.10:g.237972330C>T , CM000663.1:g.237972330C>T	GRCh37
NC_000001.9:g.236038953C>T	NCBI36
NG_008799.2:g.771629C>T
NG_008799.3:g.771847C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5520C>T	ENSP00000499659.2:n.*5520C>T
ENST00000659194.3:c.14410C>T	ENSP00000499653.3:p.Leu4804=
ENST00000660292.2:c.14449C>T	ENSP00000499787.2:p.Leu4817=
ENST00000659194.2:c.6599C>T
ENST00000366574.7:c.14428C>T MANE Select	ENSP00000355533.2:p.Leu4810=
ENST00000360064.7:c.14377C>T	ENSP00000353174.7:p.Leu4793=
ENST00000366574.6:c.14428C>T	ENSP00000355533.2:p.Leu4810=
ENST00000608590.5:n.939C>T
NM_001035.2:c.14428C>T	NP_001026.2:p.Leu4810=
XM_006711802.2:c.14482C>T	XP_006711865.1:p.Leu4828=
XM_006711803.2:c.14479C>T	XP_006711866.1:p.Leu4827=
XM_006711804.2:c.14458C>T	XP_006711867.1:p.Leu4820=
XM_006711805.2:c.14452C>T	XP_006711868.1:p.Leu4818=
XM_006711806.2:c.14446C>T	XP_006711869.1:p.Leu4816=
XM_006711807.2:c.14422C>T	XP_006711870.1:p.Leu4808=
XM_006711808.2:c.14245C>T	XP_006711871.1:p.Leu4749=
XM_006711810.2:c.14389C>T	XP_006711873.1:p.Leu4797=
XM_006711802.3:c.14482C>T	XP_006711865.1:p.Leu4828=
XM_006711803.3:c.14479C>T	XP_006711866.1:p.Leu4827=
XM_006711804.3:c.14458C>T	XP_006711867.1:p.Leu4820=
XM_006711805.3:c.14452C>T	XP_006711868.1:p.Leu4818=
XM_006711806.3:c.14446C>T	XP_006711869.1:p.Leu4816=
XM_006711807.3:c.14422C>T	XP_006711870.1:p.Leu4808=
XM_006711808.3:c.14245C>T	XP_006711871.1:p.Leu4749=
XM_006711810.3:c.14389C>T	XP_006711873.1:p.Leu4797=
XM_017002028.1:c.14461C>T	XP_016857517.1:p.Leu4821=
NM_001035.3:c.14428C>T MANE Select	NP_001026.2:p.Leu4810=