Canonical Allele Identifier: CA2487493397

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808985A= , CM000663.2:g.237808985A=	GRCh38
NC_000001.10:g.237972285A= , CM000663.1:g.237972285A=	GRCh37
NC_000001.9:g.236038908A=	NCBI36
NG_008799.2:g.771584A=
NG_008799.3:g.771802A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5475A=	ENSP00000499659.2:n.*5475A=
ENST00000659194.3:c.14365A=	ENSP00000499653.3:p.Lys4789=
ENST00000660292.2:c.14404A=	ENSP00000499787.2:p.Lys4802=
ENST00000659194.2:c.6554A=
ENST00000366574.7:c.14383A= MANE Select	ENSP00000355533.2:p.Lys4795=
ENST00000360064.7:c.14332A=	ENSP00000353174.7:p.Lys4778=
ENST00000366574.6:c.14383A=	ENSP00000355533.2:p.Lys4795=
ENST00000608590.5:n.894A=
NM_001035.2:c.14383A=	NP_001026.2:p.Lys4795=
XM_006711802.2:c.14437A=	XP_006711865.1:p.Lys4813=
XM_006711803.2:c.14434A=	XP_006711866.1:p.Lys4812=
XM_006711804.2:c.14413A=	XP_006711867.1:p.Lys4805=
XM_006711805.2:c.14407A=	XP_006711868.1:p.Lys4803=
XM_006711806.2:c.14401A=	XP_006711869.1:p.Lys4801=
XM_006711807.2:c.14377A=	XP_006711870.1:p.Lys4793=
XM_006711808.2:c.14200A=	XP_006711871.1:p.Lys4734=
XM_006711810.2:c.14344A=	XP_006711873.1:p.Lys4782=
XM_006711802.3:c.14437A=	XP_006711865.1:p.Lys4813=
XM_006711803.3:c.14434A=	XP_006711866.1:p.Lys4812=
XM_006711804.3:c.14413A=	XP_006711867.1:p.Lys4805=
XM_006711805.3:c.14407A=	XP_006711868.1:p.Lys4803=
XM_006711806.3:c.14401A=	XP_006711869.1:p.Lys4801=
XM_006711807.3:c.14377A=	XP_006711870.1:p.Lys4793=
XM_006711808.3:c.14200A=	XP_006711871.1:p.Lys4734=
XM_006711810.3:c.14344A=	XP_006711873.1:p.Lys4782=
XM_017002028.1:c.14416A=	XP_016857517.1:p.Lys4806=
NM_001035.3:c.14383A= MANE Select	NP_001026.2:p.Lys4795=