Canonical Allele Identifier: CA345406236

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237700452G>C , CM000663.2:g.237700452G>C	GRCh38
NC_000001.10:g.237863752G>C , CM000663.1:g.237863752G>C	GRCh37
NC_000001.9:g.235930375G>C	NCBI36
NG_008799.2:g.663051G>C
NG_008799.3:g.663269G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*387G>C	ENSP00000499659.2:n.*387G>C
ENST00000659194.3:c.9352G>C	ENSP00000499653.3:p.Gly3118Arg
ENST00000660292.2:c.9352G>C	ENSP00000499787.2:p.Gly3118Arg
ENST00000659194.2:c.1541G>C
ENST00000366574.7:c.9352G>C MANE Select	ENSP00000355533.2:p.Gly3118Arg
ENST00000659194.1:c.1541G>C
ENST00000360064.7:c.9304G>C	ENSP00000353174.7:p.Gly3102Arg
ENST00000366574.6:c.9352G>C	ENSP00000355533.2:p.Gly3118Arg
ENST00000609119.1:n.490G>C
NM_001035.2:c.9352G>C	NP_001026.2:p.Gly3118Arg
XM_006711802.2:c.9382G>C	XP_006711865.1:p.Gly3128Arg
XM_006711803.2:c.9379G>C	XP_006711866.1:p.Gly3127Arg
XM_006711804.2:c.9382G>C	XP_006711867.1:p.Gly3128Arg
XM_006711805.2:c.9352G>C	XP_006711868.1:p.Gly3118Arg
XM_006711806.2:c.9382G>C	XP_006711869.1:p.Gly3128Arg
XM_006711807.2:c.9382G>C	XP_006711870.1:p.Gly3128Arg
XM_006711808.2:c.9145G>C	XP_006711871.1:p.Gly3049Arg
XM_006711810.2:c.9349G>C	XP_006711873.1:p.Gly3117Arg
XR_949152.1:n.9613G>C
XM_006711802.3:c.9382G>C	XP_006711865.1:p.Gly3128Arg
XM_006711803.3:c.9379G>C	XP_006711866.1:p.Gly3127Arg
XM_006711804.3:c.9382G>C	XP_006711867.1:p.Gly3128Arg
XM_006711805.3:c.9352G>C	XP_006711868.1:p.Gly3118Arg
XM_006711806.3:c.9382G>C	XP_006711869.1:p.Gly3128Arg
XM_006711807.3:c.9382G>C	XP_006711870.1:p.Gly3128Arg
XM_006711808.3:c.9145G>C	XP_006711871.1:p.Gly3049Arg
XM_006711810.3:c.9349G>C	XP_006711873.1:p.Gly3117Arg
XM_017002028.1:c.9361G>C	XP_016857517.1:p.Gly3121Arg
XR_949152.2:n.9646G>C
NM_001035.3:c.9352G>C MANE Select	NP_001026.2:p.Gly3118Arg