Canonical Allele Identifier: CA1140931691

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809023C= , CM000663.2:g.237809023C=	GRCh38
NC_000001.10:g.237972323C= , CM000663.1:g.237972323C=	GRCh37
NC_000001.9:g.236038946C=	NCBI36
NG_008799.2:g.771622C=
NG_008799.3:g.771840C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5513C=	ENSP00000499659.2:n.*5513C=
ENST00000659194.3:c.14403C=	ENSP00000499653.3:p.Asp4801=
ENST00000660292.2:c.14442C=	ENSP00000499787.2:p.Asp4814=
ENST00000659194.2:c.6592C=
ENST00000366574.7:c.14421C= MANE Select	ENSP00000355533.2:p.Asp4807=
ENST00000360064.7:c.14370C=	ENSP00000353174.7:p.Asp4790=
ENST00000366574.6:c.14421C=	ENSP00000355533.2:p.Asp4807=
ENST00000608590.5:n.932C=
NM_001035.2:c.14421C=	NP_001026.2:p.Asp4807=
XM_006711802.2:c.14475C=	XP_006711865.1:p.Asp4825=
XM_006711803.2:c.14472C=	XP_006711866.1:p.Asp4824=
XM_006711804.2:c.14451C=	XP_006711867.1:p.Asp4817=
XM_006711805.2:c.14445C=	XP_006711868.1:p.Asp4815=
XM_006711806.2:c.14439C=	XP_006711869.1:p.Asp4813=
XM_006711807.2:c.14415C=	XP_006711870.1:p.Asp4805=
XM_006711808.2:c.14238C=	XP_006711871.1:p.Asp4746=
XM_006711810.2:c.14382C=	XP_006711873.1:p.Asp4794=
XM_006711802.3:c.14475C=	XP_006711865.1:p.Asp4825=
XM_006711803.3:c.14472C=	XP_006711866.1:p.Asp4824=
XM_006711804.3:c.14451C=	XP_006711867.1:p.Asp4817=
XM_006711805.3:c.14445C=	XP_006711868.1:p.Asp4815=
XM_006711806.3:c.14439C=	XP_006711869.1:p.Asp4813=
XM_006711807.3:c.14415C=	XP_006711870.1:p.Asp4805=
XM_006711808.3:c.14238C=	XP_006711871.1:p.Asp4746=
XM_006711810.3:c.14382C=	XP_006711873.1:p.Asp4794=
XM_017002028.1:c.14454C=	XP_016857517.1:p.Asp4818=
NM_001035.3:c.14421C= MANE Select	NP_001026.2:p.Asp4807=