Canonical Allele Identifier: CA011222

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237705281C>T , CM000663.2:g.237705281C>T	GRCh38
NC_000001.10:g.237868581C>T , CM000663.1:g.237868581C>T	GRCh37
NC_000001.9:g.235935204C>T	NCBI36
NG_008799.2:g.667880C>T
NG_008799.3:g.668098C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*553C>T	ENSP00000499659.2:n.*553C>T
ENST00000659194.3:c.9518C>T	ENSP00000499653.3:p.Thr3173Ile
ENST00000660292.2:c.9518C>T	ENSP00000499787.2:p.Thr3173Ile
ENST00000659194.2:c.1707C>T
ENST00000366574.7:c.9518C>T MANE Select	ENSP00000355533.2:p.Thr3173Ile
ENST00000659194.1:c.1707C>T
ENST00000360064.7:c.9470C>T	ENSP00000353174.7:p.Thr3157Ile
ENST00000366574.6:c.9518C>T	ENSP00000355533.2:p.Thr3173Ile
ENST00000609119.1:n.656C>T
NM_001035.2:c.9518C>T	NP_001026.2:p.Thr3173Ile
XM_006711802.2:c.9548C>T	XP_006711865.1:p.Thr3183Ile
XM_006711803.2:c.9545C>T	XP_006711866.1:p.Thr3182Ile
XM_006711804.2:c.9548C>T	XP_006711867.1:p.Thr3183Ile
XM_006711805.2:c.9518C>T	XP_006711868.1:p.Thr3173Ile
XM_006711806.2:c.9548C>T	XP_006711869.1:p.Thr3183Ile
XM_006711807.2:c.9548C>T	XP_006711870.1:p.Thr3183Ile
XM_006711808.2:c.9311C>T	XP_006711871.1:p.Thr3104Ile
XM_006711810.2:c.9515C>T	XP_006711873.1:p.Thr3172Ile
XR_949152.1:n.9779C>T
XM_006711802.3:c.9548C>T	XP_006711865.1:p.Thr3183Ile
XM_006711803.3:c.9545C>T	XP_006711866.1:p.Thr3182Ile
XM_006711804.3:c.9548C>T	XP_006711867.1:p.Thr3183Ile
XM_006711805.3:c.9518C>T	XP_006711868.1:p.Thr3173Ile
XM_006711806.3:c.9548C>T	XP_006711869.1:p.Thr3183Ile
XM_006711807.3:c.9548C>T	XP_006711870.1:p.Thr3183Ile
XM_006711808.3:c.9311C>T	XP_006711871.1:p.Thr3104Ile
XM_006711810.3:c.9515C>T	XP_006711873.1:p.Thr3172Ile
XM_017002028.1:c.9527C>T	XP_016857517.1:p.Thr3176Ile
XR_949152.2:n.9812C>T
NM_001035.3:c.9518C>T MANE Select	NP_001026.2:p.Thr3173Ile