Canonical Allele Identifier: CA008106

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237798057G>A , CM000663.2:g.237798057G>A	GRCh38
NC_000001.10:g.237961357G>A , CM000663.1:g.237961357G>A	GRCh37
NC_000001.9:g.236027980G>A	NCBI36
NG_008799.2:g.760656G>A
NG_008799.3:g.760874G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5069G>A	ENSP00000499659.2:n.*5069G>A
ENST00000659194.3:c.13959G>A	ENSP00000499653.3:p.Glu4653=
ENST00000660292.2:c.13998G>A	ENSP00000499787.2:p.Glu4666=
ENST00000659194.2:c.6148G>A
ENST00000366574.7:c.13977G>A MANE Select	ENSP00000355533.2:p.Glu4659=
ENST00000360064.7:c.13926G>A	ENSP00000353174.7:p.Glu4642=
ENST00000366574.6:c.13977G>A	ENSP00000355533.2:p.Glu4659=
ENST00000608590.5:n.488G>A
NM_001035.2:c.13977G>A	NP_001026.2:p.Glu4659=
XM_006711802.2:c.14031G>A	XP_006711865.1:p.Glu4677=
XM_006711803.2:c.14028G>A	XP_006711866.1:p.Glu4676=
XM_006711804.2:c.14007G>A	XP_006711867.1:p.Glu4669=
XM_006711805.2:c.14001G>A	XP_006711868.1:p.Glu4667=
XM_006711806.2:c.13995G>A	XP_006711869.1:p.Glu4665=
XM_006711807.2:c.13971G>A	XP_006711870.1:p.Glu4657=
XM_006711808.2:c.13794G>A	XP_006711871.1:p.Glu4598=
XM_006711810.2:c.13938G>A	XP_006711873.1:p.Glu4646=
XM_006711802.3:c.14031G>A	XP_006711865.1:p.Glu4677=
XM_006711803.3:c.14028G>A	XP_006711866.1:p.Glu4676=
XM_006711804.3:c.14007G>A	XP_006711867.1:p.Glu4669=
XM_006711805.3:c.14001G>A	XP_006711868.1:p.Glu4667=
XM_006711806.3:c.13995G>A	XP_006711869.1:p.Glu4665=
XM_006711807.3:c.13971G>A	XP_006711870.1:p.Glu4657=
XM_006711808.3:c.13794G>A	XP_006711871.1:p.Glu4598=
XM_006711810.3:c.13938G>A	XP_006711873.1:p.Glu4646=
XM_017002028.1:c.14010G>A	XP_016857517.1:p.Glu4670=
NM_001035.3:c.13977G>A MANE Select	NP_001026.2:p.Glu4659=