Canonical Allele Identifier: CA085067

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778767G>A , CM000663.2:g.237778767G>A	GRCh38
NC_000001.10:g.237942067G>A , CM000663.1:g.237942067G>A	GRCh37
NC_000001.9:g.236008690G>A	NCBI36
NG_008799.2:g.741366G>A
NG_008799.3:g.741584G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11877G>A MANE Select	NP_001026.2:p.Ser3959=
ENST00000366574.7:c.11877G>A MANE Select	ENSP00000355533.2:p.Ser3959=
NM_001035.2:c.11877G>A	NP_001026.2:p.Ser3959=
ENST00000360064.7:c.11829G>A	ENSP00000353174.7:p.Ser3943=
ENST00000366574.6:c.11877G>A	ENSP00000355533.2:p.Ser3959=
ENST00000609119.1:n.3072G>A
ENST00000609119.2:c.*2969G>A	ENSP00000499659.2:n.*2969G>A
ENST00000659194.1:c.4054G>A
ENST00000659194.2:c.4054G>A
ENST00000659194.3:c.11865G>A	ENSP00000499653.3:p.Ser3955=
ENST00000660292.1:c.1930G>A
ENST00000660292.2:c.11898G>A	ENSP00000499787.2:p.Ser3966=
XM_006711802.2:c.11931G>A	XP_006711865.1:p.Ser3977=
XM_006711802.3:c.11931G>A	XP_006711865.1:p.Ser3977=
XM_006711803.2:c.11928G>A	XP_006711866.1:p.Ser3976=
XM_006711803.3:c.11928G>A	XP_006711866.1:p.Ser3976=
XM_006711804.2:c.11907G>A	XP_006711867.1:p.Ser3969=
XM_006711804.3:c.11907G>A	XP_006711867.1:p.Ser3969=
XM_006711805.2:c.11901G>A	XP_006711868.1:p.Ser3967=
XM_006711805.3:c.11901G>A	XP_006711868.1:p.Ser3967=
XM_006711806.2:c.11895G>A	XP_006711869.1:p.Ser3965=
XM_006711806.3:c.11895G>A	XP_006711869.1:p.Ser3965=
XM_006711807.2:c.11871G>A	XP_006711870.1:p.Ser3957=
XM_006711807.3:c.11871G>A	XP_006711870.1:p.Ser3957=
XM_006711808.2:c.11694G>A	XP_006711871.1:p.Ser3898=
XM_006711808.3:c.11694G>A	XP_006711871.1:p.Ser3898=
XM_006711810.2:c.11838G>A	XP_006711873.1:p.Ser3946=
XM_006711810.3:c.11838G>A	XP_006711873.1:p.Ser3946=
XM_017002028.1:c.11910G>A	XP_016857517.1:p.Ser3970=