Canonical Allele Identifier: CA345409022

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778678G>C , CM000663.2:g.237778678G>C	GRCh38
NC_000001.10:g.237941978G>C , CM000663.1:g.237941978G>C	GRCh37
NC_000001.9:g.236008601G>C	NCBI36
NG_008799.2:g.741277G>C
NG_008799.3:g.741495G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11788G>C MANE Select	NP_001026.2:p.Gly3930Arg
ENST00000366574.7:c.11788G>C MANE Select	ENSP00000355533.2:p.Gly3930Arg
NM_001035.2:c.11788G>C	NP_001026.2:p.Gly3930Arg
ENST00000360064.7:c.11740G>C	ENSP00000353174.7:p.Gly3914Arg
ENST00000366574.6:c.11788G>C	ENSP00000355533.2:p.Gly3930Arg
ENST00000609119.1:n.2983G>C
ENST00000609119.2:c.*2880G>C	ENSP00000499659.2:n.*2880G>C
ENST00000659194.1:c.3965G>C
ENST00000659194.2:c.3965G>C
ENST00000659194.3:c.11776G>C	ENSP00000499653.3:p.Gly3926Arg
ENST00000660292.1:c.1841G>C
ENST00000660292.2:c.11809G>C	ENSP00000499787.2:p.Gly3937Arg
XM_006711802.2:c.11842G>C	XP_006711865.1:p.Gly3948Arg
XM_006711802.3:c.11842G>C	XP_006711865.1:p.Gly3948Arg
XM_006711803.2:c.11839G>C	XP_006711866.1:p.Gly3947Arg
XM_006711803.3:c.11839G>C	XP_006711866.1:p.Gly3947Arg
XM_006711804.2:c.11818G>C	XP_006711867.1:p.Gly3940Arg
XM_006711804.3:c.11818G>C	XP_006711867.1:p.Gly3940Arg
XM_006711805.2:c.11812G>C	XP_006711868.1:p.Gly3938Arg
XM_006711805.3:c.11812G>C	XP_006711868.1:p.Gly3938Arg
XM_006711806.2:c.11806G>C	XP_006711869.1:p.Gly3936Arg
XM_006711806.3:c.11806G>C	XP_006711869.1:p.Gly3936Arg
XM_006711807.2:c.11782G>C	XP_006711870.1:p.Gly3928Arg
XM_006711807.3:c.11782G>C	XP_006711870.1:p.Gly3928Arg
XM_006711808.2:c.11605G>C	XP_006711871.1:p.Gly3869Arg
XM_006711808.3:c.11605G>C	XP_006711871.1:p.Gly3869Arg
XM_006711810.2:c.11749G>C	XP_006711873.1:p.Gly3917Arg
XM_006711810.3:c.11749G>C	XP_006711873.1:p.Gly3917Arg
XM_017002028.1:c.11821G>C	XP_016857517.1:p.Gly3941Arg