Canonical Allele Identifier: CA2487482388

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784109C= , CM000663.2:g.237784109C=	GRCh38
NC_000001.10:g.237947409C= , CM000663.1:g.237947409C=	GRCh37
NC_000001.9:g.236014032C=	NCBI36
NG_008799.2:g.746708C=
NG_008799.3:g.746926C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3489C=	ENSP00000499659.2:n.*3489C=
ENST00000659194.3:c.12385C=	ENSP00000499653.3:p.Leu4129=
ENST00000660292.2:c.12418C=	ENSP00000499787.2:p.Leu4140=
ENST00000659194.2:c.4574C=
ENST00000366574.7:c.12397C= MANE Select	ENSP00000355533.2:p.Leu4133=
ENST00000659194.1:c.4574C=
ENST00000660292.1:c.2450C=
ENST00000360064.7:c.12349C=	ENSP00000353174.7:p.Leu4117=
ENST00000366574.6:c.12397C=	ENSP00000355533.2:p.Leu4133=
ENST00000609119.1:n.3592C=
NM_001035.2:c.12397C=	NP_001026.2:p.Leu4133=
XM_006711802.2:c.12451C=	XP_006711865.1:p.Leu4151=
XM_006711803.2:c.12448C=	XP_006711866.1:p.Leu4150=
XM_006711804.2:c.12427C=	XP_006711867.1:p.Leu4143=
XM_006711805.2:c.12421C=	XP_006711868.1:p.Leu4141=
XM_006711806.2:c.12415C=	XP_006711869.1:p.Leu4139=
XM_006711807.2:c.12391C=	XP_006711870.1:p.Leu4131=
XM_006711808.2:c.12214C=	XP_006711871.1:p.Leu4072=
XM_006711810.2:c.12358C=	XP_006711873.1:p.Leu4120=
XM_006711802.3:c.12451C=	XP_006711865.1:p.Leu4151=
XM_006711803.3:c.12448C=	XP_006711866.1:p.Leu4150=
XM_006711804.3:c.12427C=	XP_006711867.1:p.Leu4143=
XM_006711805.3:c.12421C=	XP_006711868.1:p.Leu4141=
XM_006711806.3:c.12415C=	XP_006711869.1:p.Leu4139=
XM_006711807.3:c.12391C=	XP_006711870.1:p.Leu4131=
XM_006711808.3:c.12214C=	XP_006711871.1:p.Leu4072=
XM_006711810.3:c.12358C=	XP_006711873.1:p.Leu4120=
XM_017002028.1:c.12430C=	XP_016857517.1:p.Leu4144=
NM_001035.3:c.12397C= MANE Select	NP_001026.2:p.Leu4133=