Canonical Allele Identifier: CA085241

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784523G>A , CM000663.2:g.237784523G>A	GRCh38
NC_000001.10:g.237947823G>A , CM000663.1:g.237947823G>A	GRCh37
NC_000001.9:g.236014446G>A	NCBI36
NG_008799.2:g.747122G>A
NG_008799.3:g.747340G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12811G>A MANE Select	NP_001026.2:p.Val4271Ile
ENST00000366574.7:c.12811G>A MANE Select	ENSP00000355533.2:p.Val4271Ile
NM_001035.2:c.12811G>A	NP_001026.2:p.Val4271Ile
ENST00000360064.7:c.12763G>A	ENSP00000353174.7:p.Val4255Ile
ENST00000366574.6:c.12811G>A	ENSP00000355533.2:p.Val4271Ile
ENST00000609119.1:n.4006G>A
ENST00000609119.2:c.*3903G>A	ENSP00000499659.2:n.*3903G>A
ENST00000659194.1:c.4988G>A
ENST00000659194.2:c.4988G>A
ENST00000659194.3:c.12799G>A	ENSP00000499653.3:p.Val4267Ile
ENST00000660292.1:c.2864G>A
ENST00000660292.2:c.12832G>A	ENSP00000499787.2:p.Val4278Ile
XM_006711802.2:c.12865G>A	XP_006711865.1:p.Val4289Ile
XM_006711802.3:c.12865G>A	XP_006711865.1:p.Val4289Ile
XM_006711803.2:c.12862G>A	XP_006711866.1:p.Val4288Ile
XM_006711803.3:c.12862G>A	XP_006711866.1:p.Val4288Ile
XM_006711804.2:c.12841G>A	XP_006711867.1:p.Val4281Ile
XM_006711804.3:c.12841G>A	XP_006711867.1:p.Val4281Ile
XM_006711805.2:c.12835G>A	XP_006711868.1:p.Val4279Ile
XM_006711805.3:c.12835G>A	XP_006711868.1:p.Val4279Ile
XM_006711806.2:c.12829G>A	XP_006711869.1:p.Val4277Ile
XM_006711806.3:c.12829G>A	XP_006711869.1:p.Val4277Ile
XM_006711807.2:c.12805G>A	XP_006711870.1:p.Val4269Ile
XM_006711807.3:c.12805G>A	XP_006711870.1:p.Val4269Ile
XM_006711808.2:c.12628G>A	XP_006711871.1:p.Val4210Ile
XM_006711808.3:c.12628G>A	XP_006711871.1:p.Val4210Ile
XM_006711810.2:c.12772G>A	XP_006711873.1:p.Val4258Ile
XM_006711810.3:c.12772G>A	XP_006711873.1:p.Val4258Ile
XM_017002028.1:c.12844G>A	XP_016857517.1:p.Val4282Ile