Canonical Allele Identifier: CA345409520

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778755G>C , CM000663.2:g.237778755G>C	GRCh38
NC_000001.10:g.237942055G>C , CM000663.1:g.237942055G>C	GRCh37
NC_000001.9:g.236008678G>C	NCBI36
NG_008799.2:g.741354G>C
NG_008799.3:g.741572G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11865G>C MANE Select	NP_001026.2:p.Gln3955His
ENST00000366574.7:c.11865G>C MANE Select	ENSP00000355533.2:p.Gln3955His
NM_001035.2:c.11865G>C	NP_001026.2:p.Gln3955His
ENST00000360064.7:c.11817G>C	ENSP00000353174.7:p.Gln3939His
ENST00000366574.6:c.11865G>C	ENSP00000355533.2:p.Gln3955His
ENST00000609119.1:n.3060G>C
ENST00000609119.2:c.*2957G>C	ENSP00000499659.2:n.*2957G>C
ENST00000659194.1:c.4042G>C
ENST00000659194.2:c.4042G>C
ENST00000659194.3:c.11853G>C	ENSP00000499653.3:p.Gln3951His
ENST00000660292.1:c.1918G>C
ENST00000660292.2:c.11886G>C	ENSP00000499787.2:p.Gln3962His
XM_006711802.2:c.11919G>C	XP_006711865.1:p.Gln3973His
XM_006711802.3:c.11919G>C	XP_006711865.1:p.Gln3973His
XM_006711803.2:c.11916G>C	XP_006711866.1:p.Gln3972His
XM_006711803.3:c.11916G>C	XP_006711866.1:p.Gln3972His
XM_006711804.2:c.11895G>C	XP_006711867.1:p.Gln3965His
XM_006711804.3:c.11895G>C	XP_006711867.1:p.Gln3965His
XM_006711805.2:c.11889G>C	XP_006711868.1:p.Gln3963His
XM_006711805.3:c.11889G>C	XP_006711868.1:p.Gln3963His
XM_006711806.2:c.11883G>C	XP_006711869.1:p.Gln3961His
XM_006711806.3:c.11883G>C	XP_006711869.1:p.Gln3961His
XM_006711807.2:c.11859G>C	XP_006711870.1:p.Gln3953His
XM_006711807.3:c.11859G>C	XP_006711870.1:p.Gln3953His
XM_006711808.2:c.11682G>C	XP_006711871.1:p.Gln3894His
XM_006711808.3:c.11682G>C	XP_006711871.1:p.Gln3894His
XM_006711810.2:c.11826G>C	XP_006711873.1:p.Gln3942His
XM_006711810.3:c.11826G>C	XP_006711873.1:p.Gln3942His
XM_017002028.1:c.11898G>C	XP_016857517.1:p.Gln3966His