Canonical Allele Identifier: CA1147643616

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237785999G= , CM000663.2:g.237785999G=	GRCh38
NC_000001.10:g.237949299G= , CM000663.1:g.237949299G=	GRCh37
NC_000001.9:g.236015922G=	NCBI36
NG_008799.2:g.748598G=
NG_008799.3:g.748816G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.13291G= MANE Select	NP_001026.2:p.Glu4431=
ENST00000366574.7:c.13291G= MANE Select	ENSP00000355533.2:p.Glu4431=
NM_001035.2:c.13291G=	NP_001026.2:p.Glu4431=
ENST00000360064.7:c.13243+993G=	ENSP00000353174.7:n.13243+993G=
ENST00000366574.6:c.13291G=	ENSP00000355533.2:p.Glu4431=
ENST00000609119.1:n.4486G=
ENST00000609119.2:c.*4383G=	ENSP00000499659.2:n.*4383G=
ENST00000659194.2:c.5462G=
ENST00000659194.3:c.13273G=	ENSP00000499653.3:p.Glu4425=
ENST00000660292.1:c.3344G=
ENST00000660292.2:c.13312G=	ENSP00000499787.2:p.Glu4438=
XM_006711802.2:c.13345G=	XP_006711865.1:p.Glu4449=
XM_006711802.3:c.13345G=	XP_006711865.1:p.Glu4449=
XM_006711803.2:c.13342G=	XP_006711866.1:p.Glu4448=
XM_006711803.3:c.13342G=	XP_006711866.1:p.Glu4448=
XM_006711804.2:c.13321G=	XP_006711867.1:p.Glu4441=
XM_006711804.3:c.13321G=	XP_006711867.1:p.Glu4441=
XM_006711805.2:c.13315G=	XP_006711868.1:p.Glu4439=
XM_006711805.3:c.13315G=	XP_006711868.1:p.Glu4439=
XM_006711806.2:c.13309G=	XP_006711869.1:p.Glu4437=
XM_006711806.3:c.13309G=	XP_006711869.1:p.Glu4437=
XM_006711807.2:c.13285G=	XP_006711870.1:p.Glu4429=
XM_006711807.3:c.13285G=	XP_006711870.1:p.Glu4429=
XM_006711808.2:c.13108G=	XP_006711871.1:p.Glu4370=
XM_006711808.3:c.13108G=	XP_006711871.1:p.Glu4370=
XM_006711810.2:c.13252G=	XP_006711873.1:p.Glu4418=
XM_006711810.3:c.13252G=	XP_006711873.1:p.Glu4418=
XM_017002028.1:c.13324G=	XP_016857517.1:p.Glu4442=