Canonical Allele Identifier: CA345409505

Gene: RYR2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11863C>A MANE Select	NP_001026.2:p.Gln3955Lys
ENST00000366574.7:c.11863C>A MANE Select	ENSP00000355533.2:p.Gln3955Lys
NM_001035.2:c.11863C>A	NP_001026.2:p.Gln3955Lys
ENST00000360064.7:c.11815C>A	ENSP00000353174.7:p.Gln3939Lys
ENST00000366574.6:c.11863C>A	ENSP00000355533.2:p.Gln3955Lys
ENST00000609119.1:n.3058C>A
ENST00000609119.2:c.*2955C>A	ENSP00000499659.2:n.*2955C>A
ENST00000659194.1:c.4040C>A
ENST00000659194.2:c.4040C>A
ENST00000659194.3:c.11851C>A	ENSP00000499653.3:p.Gln3951Lys
ENST00000660292.1:c.1916C>A
ENST00000660292.2:c.11884C>A	ENSP00000499787.2:p.Gln3962Lys
XM_006711802.2:c.11917C>A	XP_006711865.1:p.Gln3973Lys
XM_006711802.3:c.11917C>A	XP_006711865.1:p.Gln3973Lys
XM_006711803.2:c.11914C>A	XP_006711866.1:p.Gln3972Lys
XM_006711803.3:c.11914C>A	XP_006711866.1:p.Gln3972Lys
XM_006711804.2:c.11893C>A	XP_006711867.1:p.Gln3965Lys
XM_006711804.3:c.11893C>A	XP_006711867.1:p.Gln3965Lys
XM_006711805.2:c.11887C>A	XP_006711868.1:p.Gln3963Lys
XM_006711805.3:c.11887C>A	XP_006711868.1:p.Gln3963Lys
XM_006711806.2:c.11881C>A	XP_006711869.1:p.Gln3961Lys
XM_006711806.3:c.11881C>A	XP_006711869.1:p.Gln3961Lys
XM_006711807.2:c.11857C>A	XP_006711870.1:p.Gln3953Lys
XM_006711807.3:c.11857C>A	XP_006711870.1:p.Gln3953Lys
XM_006711808.2:c.11680C>A	XP_006711871.1:p.Gln3894Lys
XM_006711808.3:c.11680C>A	XP_006711871.1:p.Gln3894Lys
XM_006711810.2:c.11824C>A	XP_006711873.1:p.Gln3942Lys
XM_006711810.3:c.11824C>A	XP_006711873.1:p.Gln3942Lys
XM_017002028.1:c.11896C>A	XP_016857517.1:p.Gln3966Lys