Canonical Allele Identifier: CA2487482235

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783714A= , CM000663.2:g.237783714A=	GRCh38
NC_000001.10:g.237947014A= , CM000663.1:g.237947014A=	GRCh37
NC_000001.9:g.236013637A=	NCBI36
NG_008799.2:g.746313A=
NG_008799.3:g.746531A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3094A=	ENSP00000499659.2:n.*3094A=
ENST00000659194.3:c.11990A=	ENSP00000499653.3:p.Asp3997=
ENST00000660292.2:c.12023A=	ENSP00000499787.2:p.Asp4008=
ENST00000659194.2:c.4179A=
ENST00000366574.7:c.12002A= MANE Select	ENSP00000355533.2:p.Asp4001=
ENST00000659194.1:c.4179A=
ENST00000660292.1:c.2055A=
ENST00000360064.7:c.11954A=	ENSP00000353174.7:p.Asp3985=
ENST00000366574.6:c.12002A=	ENSP00000355533.2:p.Asp4001=
ENST00000609119.1:n.3197A=
NM_001035.2:c.12002A=	NP_001026.2:p.Asp4001=
XM_006711802.2:c.12056A=	XP_006711865.1:p.Asp4019=
XM_006711803.2:c.12053A=	XP_006711866.1:p.Asp4018=
XM_006711804.2:c.12032A=	XP_006711867.1:p.Asp4011=
XM_006711805.2:c.12026A=	XP_006711868.1:p.Asp4009=
XM_006711806.2:c.12020A=	XP_006711869.1:p.Asp4007=
XM_006711807.2:c.11996A=	XP_006711870.1:p.Asp3999=
XM_006711808.2:c.11819A=	XP_006711871.1:p.Asp3940=
XM_006711810.2:c.11963A=	XP_006711873.1:p.Asp3988=
XM_006711802.3:c.12056A=	XP_006711865.1:p.Asp4019=
XM_006711803.3:c.12053A=	XP_006711866.1:p.Asp4018=
XM_006711804.3:c.12032A=	XP_006711867.1:p.Asp4011=
XM_006711805.3:c.12026A=	XP_006711868.1:p.Asp4009=
XM_006711806.3:c.12020A=	XP_006711869.1:p.Asp4007=
XM_006711807.3:c.11996A=	XP_006711870.1:p.Asp3999=
XM_006711808.3:c.11819A=	XP_006711871.1:p.Asp3940=
XM_006711810.3:c.11963A=	XP_006711873.1:p.Asp3988=
XM_017002028.1:c.12035A=	XP_016857517.1:p.Asp4012=
NM_001035.3:c.12002A= MANE Select	NP_001026.2:p.Asp4001=