Canonical Allele Identifier: CA345416201

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237723236G>A , CM000663.2:g.237723236G>A	GRCh38
NC_000001.10:g.237886536G>A , CM000663.1:g.237886536G>A	GRCh37
NC_000001.9:g.235953159G>A	NCBI36
NG_008799.2:g.685835G>A
NG_008799.3:g.686053G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.10663G>A MANE Select	NP_001026.2:p.Ala3555Thr
ENST00000366574.7:c.10663G>A MANE Select	ENSP00000355533.2:p.Ala3555Thr
NM_001035.2:c.10663G>A	NP_001026.2:p.Ala3555Thr
ENST00000360064.7:c.10615G>A	ENSP00000353174.7:p.Ala3539Thr
ENST00000366574.6:c.10663G>A	ENSP00000355533.2:p.Ala3555Thr
ENST00000609119.1:n.1801G>A
ENST00000609119.2:c.*1698G>A	ENSP00000499659.2:n.*1698G>A
ENST00000609253.1:n.26G>A
ENST00000659194.1:c.2852G>A
ENST00000659194.2:c.2852G>A
ENST00000659194.3:c.10663G>A	ENSP00000499653.3:p.Ala3555Thr
ENST00000660292.1:c.695G>A
ENST00000660292.2:c.10663G>A	ENSP00000499787.2:p.Ala3555Thr
ENST00000661330.1:c.470G>A
XM_006711802.2:c.10693G>A	XP_006711865.1:p.Ala3565Thr
XM_006711802.3:c.10693G>A	XP_006711865.1:p.Ala3565Thr
XM_006711803.2:c.10690G>A	XP_006711866.1:p.Ala3564Thr
XM_006711803.3:c.10690G>A	XP_006711866.1:p.Ala3564Thr
XM_006711804.2:c.10693G>A	XP_006711867.1:p.Ala3565Thr
XM_006711804.3:c.10693G>A	XP_006711867.1:p.Ala3565Thr
XM_006711805.2:c.10663G>A	XP_006711868.1:p.Ala3555Thr
XM_006711805.3:c.10663G>A	XP_006711868.1:p.Ala3555Thr
XM_006711806.2:c.10693G>A	XP_006711869.1:p.Ala3565Thr
XM_006711806.3:c.10693G>A	XP_006711869.1:p.Ala3565Thr
XM_006711807.2:c.10693G>A	XP_006711870.1:p.Ala3565Thr
XM_006711807.3:c.10693G>A	XP_006711870.1:p.Ala3565Thr
XM_006711808.2:c.10456G>A	XP_006711871.1:p.Ala3486Thr
XM_006711808.3:c.10456G>A	XP_006711871.1:p.Ala3486Thr
XM_006711810.2:c.10660G>A	XP_006711873.1:p.Ala3554Thr
XM_006711810.3:c.10660G>A	XP_006711873.1:p.Ala3554Thr
XM_017002028.1:c.10672G>A	XP_016857517.1:p.Ala3558Thr