Canonical Allele Identifier: CA006660

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237718490T>C , CM000663.2:g.237718490T>C	GRCh38
NC_000001.10:g.237881790T>C , CM000663.1:g.237881790T>C	GRCh37
NC_000001.9:g.235948413T>C	NCBI36
NG_008799.2:g.681089T>C
NG_008799.3:g.681307T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1558T>C	ENSP00000499659.2:n.*1558T>C
ENST00000659194.3:c.10523T>C	ENSP00000499653.3:p.Ile3508Thr
ENST00000660292.2:c.10523T>C	ENSP00000499787.2:p.Ile3508Thr
ENST00000659194.2:c.2712T>C
ENST00000366574.7:c.10523T>C MANE Select	ENSP00000355533.2:p.Ile3508Thr
ENST00000659194.1:c.2712T>C
ENST00000660292.1:c.555T>C
ENST00000661330.1:c.330T>C
ENST00000360064.7:c.10475T>C	ENSP00000353174.7:p.Ile3492Thr
ENST00000366574.6:c.10523T>C	ENSP00000355533.2:p.Ile3508Thr
ENST00000609119.1:n.1661T>C
NM_001035.2:c.10523T>C	NP_001026.2:p.Ile3508Thr
XM_006711802.2:c.10553T>C	XP_006711865.1:p.Ile3518Thr
XM_006711803.2:c.10550T>C	XP_006711866.1:p.Ile3517Thr
XM_006711804.2:c.10553T>C	XP_006711867.1:p.Ile3518Thr
XM_006711805.2:c.10523T>C	XP_006711868.1:p.Ile3508Thr
XM_006711806.2:c.10553T>C	XP_006711869.1:p.Ile3518Thr
XM_006711807.2:c.10553T>C	XP_006711870.1:p.Ile3518Thr
XM_006711808.2:c.10316T>C	XP_006711871.1:p.Ile3439Thr
XM_006711810.2:c.10520T>C	XP_006711873.1:p.Ile3507Thr
XM_006711802.3:c.10553T>C	XP_006711865.1:p.Ile3518Thr
XM_006711803.3:c.10550T>C	XP_006711866.1:p.Ile3517Thr
XM_006711804.3:c.10553T>C	XP_006711867.1:p.Ile3518Thr
XM_006711805.3:c.10523T>C	XP_006711868.1:p.Ile3508Thr
XM_006711806.3:c.10553T>C	XP_006711869.1:p.Ile3518Thr
XM_006711807.3:c.10553T>C	XP_006711870.1:p.Ile3518Thr
XM_006711808.3:c.10316T>C	XP_006711871.1:p.Ile3439Thr
XM_006711810.3:c.10520T>C	XP_006711873.1:p.Ile3507Thr
XM_017002028.1:c.10532T>C	XP_016857517.1:p.Ile3511Thr
NM_001035.3:c.10523T>C MANE Select	NP_001026.2:p.Ile3508Thr