Canonical Allele Identifier: CA2487477024

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770833T= , CM000663.2:g.237770833T=	GRCh38
NC_000001.10:g.237934133T= , CM000663.1:g.237934133T=	GRCh37
NC_000001.9:g.236000756T=	NCBI36
NG_008799.2:g.733432T=
NG_008799.3:g.733650T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2595T=	ENSP00000499659.2:n.*2595T=
ENST00000659194.3:c.11491T=	ENSP00000499653.3:p.Phe3831=
ENST00000660292.2:c.11524T=	ENSP00000499787.2:p.Phe3842=
ENST00000659194.2:c.3680T=
ENST00000366574.7:c.11503T= MANE Select	ENSP00000355533.2:p.Phe3835=
ENST00000659194.1:c.3680T=
ENST00000660292.1:c.1556T=
ENST00000360064.7:c.11455T=	ENSP00000353174.7:p.Phe3819=
ENST00000366574.6:c.11503T=	ENSP00000355533.2:p.Phe3835=
ENST00000609119.1:n.2698T=
NM_001035.2:c.11503T=	NP_001026.2:p.Phe3835=
XM_006711802.2:c.11557T=	XP_006711865.1:p.Phe3853=
XM_006711803.2:c.11554T=	XP_006711866.1:p.Phe3852=
XM_006711804.2:c.11533T=	XP_006711867.1:p.Phe3845=
XM_006711805.2:c.11527T=	XP_006711868.1:p.Phe3843=
XM_006711806.2:c.11521T=	XP_006711869.1:p.Phe3841=
XM_006711807.2:c.11497T=	XP_006711870.1:p.Phe3833=
XM_006711808.2:c.11320T=	XP_006711871.1:p.Phe3774=
XM_006711810.2:c.11464T=	XP_006711873.1:p.Phe3822=
XM_006711802.3:c.11557T=	XP_006711865.1:p.Phe3853=
XM_006711803.3:c.11554T=	XP_006711866.1:p.Phe3852=
XM_006711804.3:c.11533T=	XP_006711867.1:p.Phe3845=
XM_006711805.3:c.11527T=	XP_006711868.1:p.Phe3843=
XM_006711806.3:c.11521T=	XP_006711869.1:p.Phe3841=
XM_006711807.3:c.11497T=	XP_006711870.1:p.Phe3833=
XM_006711808.3:c.11320T=	XP_006711871.1:p.Phe3774=
XM_006711810.3:c.11464T=	XP_006711873.1:p.Phe3822=
XM_017002028.1:c.11536T=	XP_016857517.1:p.Phe3846=
NM_001035.3:c.11503T= MANE Select	NP_001026.2:p.Phe3835=