Canonical Allele Identifier: CA345410299

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237781643G>C , CM000663.2:g.237781643G>C	GRCh38
NC_000001.10:g.237944943G>C , CM000663.1:g.237944943G>C	GRCh37
NC_000001.9:g.236011566G>C	NCBI36
NG_008799.2:g.744242G>C
NG_008799.3:g.744460G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11959G>C MANE Select	NP_001026.2:p.Glu3987Gln
ENST00000366574.7:c.11959G>C MANE Select	ENSP00000355533.2:p.Glu3987Gln
NM_001035.2:c.11959G>C	NP_001026.2:p.Glu3987Gln
ENST00000360064.7:c.11911G>C	ENSP00000353174.7:p.Glu3971Gln
ENST00000366574.6:c.11959G>C	ENSP00000355533.2:p.Glu3987Gln
ENST00000609119.1:n.3154G>C
ENST00000609119.2:c.*3051G>C	ENSP00000499659.2:n.*3051G>C
ENST00000659194.1:c.4136G>C
ENST00000659194.2:c.4136G>C
ENST00000659194.3:c.11947G>C	ENSP00000499653.3:p.Glu3983Gln
ENST00000660292.1:c.2012G>C
ENST00000660292.2:c.11980G>C	ENSP00000499787.2:p.Glu3994Gln
XM_006711802.2:c.12013G>C	XP_006711865.1:p.Glu4005Gln
XM_006711802.3:c.12013G>C	XP_006711865.1:p.Glu4005Gln
XM_006711803.2:c.12010G>C	XP_006711866.1:p.Glu4004Gln
XM_006711803.3:c.12010G>C	XP_006711866.1:p.Glu4004Gln
XM_006711804.2:c.11989G>C	XP_006711867.1:p.Glu3997Gln
XM_006711804.3:c.11989G>C	XP_006711867.1:p.Glu3997Gln
XM_006711805.2:c.11983G>C	XP_006711868.1:p.Glu3995Gln
XM_006711805.3:c.11983G>C	XP_006711868.1:p.Glu3995Gln
XM_006711806.2:c.11977G>C	XP_006711869.1:p.Glu3993Gln
XM_006711806.3:c.11977G>C	XP_006711869.1:p.Glu3993Gln
XM_006711807.2:c.11953G>C	XP_006711870.1:p.Glu3985Gln
XM_006711807.3:c.11953G>C	XP_006711870.1:p.Glu3985Gln
XM_006711808.2:c.11776G>C	XP_006711871.1:p.Glu3926Gln
XM_006711808.3:c.11776G>C	XP_006711871.1:p.Glu3926Gln
XM_006711810.2:c.11920G>C	XP_006711873.1:p.Glu3974Gln
XM_006711810.3:c.11920G>C	XP_006711873.1:p.Glu3974Gln
XM_017002028.1:c.11992G>C	XP_016857517.1:p.Glu3998Gln