Canonical Allele Identifier: CA2487482462

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784275T= , CM000663.2:g.237784275T=	GRCh38
NC_000001.10:g.237947575T= , CM000663.1:g.237947575T=	GRCh37
NC_000001.9:g.236014198T=	NCBI36
NG_008799.2:g.746874T=
NG_008799.3:g.747092T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3655T=	ENSP00000499659.2:n.*3655T=
ENST00000659194.3:c.12551T=	ENSP00000499653.3:p.Leu4184=
ENST00000660292.2:c.12584T=	ENSP00000499787.2:p.Leu4195=
ENST00000659194.2:c.4740T=
ENST00000366574.7:c.12563T= MANE Select	ENSP00000355533.2:p.Leu4188=
ENST00000659194.1:c.4740T=
ENST00000660292.1:c.2616T=
ENST00000360064.7:c.12515T=	ENSP00000353174.7:p.Leu4172=
ENST00000366574.6:c.12563T=	ENSP00000355533.2:p.Leu4188=
ENST00000609119.1:n.3758T=
NM_001035.2:c.12563T=	NP_001026.2:p.Leu4188=
XM_006711802.2:c.12617T=	XP_006711865.1:p.Leu4206=
XM_006711803.2:c.12614T=	XP_006711866.1:p.Leu4205=
XM_006711804.2:c.12593T=	XP_006711867.1:p.Leu4198=
XM_006711805.2:c.12587T=	XP_006711868.1:p.Leu4196=
XM_006711806.2:c.12581T=	XP_006711869.1:p.Leu4194=
XM_006711807.2:c.12557T=	XP_006711870.1:p.Leu4186=
XM_006711808.2:c.12380T=	XP_006711871.1:p.Leu4127=
XM_006711810.2:c.12524T=	XP_006711873.1:p.Leu4175=
XM_006711802.3:c.12617T=	XP_006711865.1:p.Leu4206=
XM_006711803.3:c.12614T=	XP_006711866.1:p.Leu4205=
XM_006711804.3:c.12593T=	XP_006711867.1:p.Leu4198=
XM_006711805.3:c.12587T=	XP_006711868.1:p.Leu4196=
XM_006711806.3:c.12581T=	XP_006711869.1:p.Leu4194=
XM_006711807.3:c.12557T=	XP_006711870.1:p.Leu4186=
XM_006711808.3:c.12380T=	XP_006711871.1:p.Leu4127=
XM_006711810.3:c.12524T=	XP_006711873.1:p.Leu4175=
XM_017002028.1:c.12596T=	XP_016857517.1:p.Leu4199=
NM_001035.3:c.12563T= MANE Select	NP_001026.2:p.Leu4188=