Canonical Allele Identifier: CA345409507

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778753C>G , CM000663.2:g.237778753C>G	GRCh38
NC_000001.10:g.237942053C>G , CM000663.1:g.237942053C>G	GRCh37
NC_000001.9:g.236008676C>G	NCBI36
NG_008799.2:g.741352C>G
NG_008799.3:g.741570C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11863C>G MANE Select	NP_001026.2:p.Gln3955Glu
ENST00000366574.7:c.11863C>G MANE Select	ENSP00000355533.2:p.Gln3955Glu
NM_001035.2:c.11863C>G	NP_001026.2:p.Gln3955Glu
ENST00000360064.7:c.11815C>G	ENSP00000353174.7:p.Gln3939Glu
ENST00000366574.6:c.11863C>G	ENSP00000355533.2:p.Gln3955Glu
ENST00000609119.1:n.3058C>G
ENST00000609119.2:c.*2955C>G	ENSP00000499659.2:n.*2955C>G
ENST00000659194.1:c.4040C>G
ENST00000659194.2:c.4040C>G
ENST00000659194.3:c.11851C>G	ENSP00000499653.3:p.Gln3951Glu
ENST00000660292.1:c.1916C>G
ENST00000660292.2:c.11884C>G	ENSP00000499787.2:p.Gln3962Glu
XM_006711802.2:c.11917C>G	XP_006711865.1:p.Gln3973Glu
XM_006711802.3:c.11917C>G	XP_006711865.1:p.Gln3973Glu
XM_006711803.2:c.11914C>G	XP_006711866.1:p.Gln3972Glu
XM_006711803.3:c.11914C>G	XP_006711866.1:p.Gln3972Glu
XM_006711804.2:c.11893C>G	XP_006711867.1:p.Gln3965Glu
XM_006711804.3:c.11893C>G	XP_006711867.1:p.Gln3965Glu
XM_006711805.2:c.11887C>G	XP_006711868.1:p.Gln3963Glu
XM_006711805.3:c.11887C>G	XP_006711868.1:p.Gln3963Glu
XM_006711806.2:c.11881C>G	XP_006711869.1:p.Gln3961Glu
XM_006711806.3:c.11881C>G	XP_006711869.1:p.Gln3961Glu
XM_006711807.2:c.11857C>G	XP_006711870.1:p.Gln3953Glu
XM_006711807.3:c.11857C>G	XP_006711870.1:p.Gln3953Glu
XM_006711808.2:c.11680C>G	XP_006711871.1:p.Gln3894Glu
XM_006711808.3:c.11680C>G	XP_006711871.1:p.Gln3894Glu
XM_006711810.2:c.11824C>G	XP_006711873.1:p.Gln3942Glu
XM_006711810.3:c.11824C>G	XP_006711873.1:p.Gln3942Glu
XM_017002028.1:c.11896C>G	XP_016857517.1:p.Gln3966Glu