Canonical Allele Identifier: CA2487493399

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808987A= , CM000663.2:g.237808987A=	GRCh38
NC_000001.10:g.237972287A= , CM000663.1:g.237972287A=	GRCh37
NC_000001.9:g.236038910A=	NCBI36
NG_008799.2:g.771586A=
NG_008799.3:g.771804A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5477A=	ENSP00000499659.2:n.*5477A=
ENST00000659194.3:c.14367A=	ENSP00000499653.3:p.Lys4789=
ENST00000660292.2:c.14406A=	ENSP00000499787.2:p.Lys4802=
ENST00000659194.2:c.6556A=
ENST00000366574.7:c.14385A= MANE Select	ENSP00000355533.2:p.Lys4795=
ENST00000360064.7:c.14334A=	ENSP00000353174.7:p.Lys4778=
ENST00000366574.6:c.14385A=	ENSP00000355533.2:p.Lys4795=
ENST00000608590.5:n.896A=
NM_001035.2:c.14385A=	NP_001026.2:p.Lys4795=
XM_006711802.2:c.14439A=	XP_006711865.1:p.Lys4813=
XM_006711803.2:c.14436A=	XP_006711866.1:p.Lys4812=
XM_006711804.2:c.14415A=	XP_006711867.1:p.Lys4805=
XM_006711805.2:c.14409A=	XP_006711868.1:p.Lys4803=
XM_006711806.2:c.14403A=	XP_006711869.1:p.Lys4801=
XM_006711807.2:c.14379A=	XP_006711870.1:p.Lys4793=
XM_006711808.2:c.14202A=	XP_006711871.1:p.Lys4734=
XM_006711810.2:c.14346A=	XP_006711873.1:p.Lys4782=
XM_006711802.3:c.14439A=	XP_006711865.1:p.Lys4813=
XM_006711803.3:c.14436A=	XP_006711866.1:p.Lys4812=
XM_006711804.3:c.14415A=	XP_006711867.1:p.Lys4805=
XM_006711805.3:c.14409A=	XP_006711868.1:p.Lys4803=
XM_006711806.3:c.14403A=	XP_006711869.1:p.Lys4801=
XM_006711807.3:c.14379A=	XP_006711870.1:p.Lys4793=
XM_006711808.3:c.14202A=	XP_006711871.1:p.Lys4734=
XM_006711810.3:c.14346A=	XP_006711873.1:p.Lys4782=
XM_017002028.1:c.14418A=	XP_016857517.1:p.Lys4806=
NM_001035.3:c.14385A= MANE Select	NP_001026.2:p.Lys4795=