Canonical Allele Identifier: CA087911

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237705285T>A , CM000663.2:g.237705285T>A	GRCh38
NC_000001.10:g.237868585T>A , CM000663.1:g.237868585T>A	GRCh37
NC_000001.9:g.235935208T>A	NCBI36
NG_008799.2:g.667884T>A
NG_008799.3:g.668102T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.9522T>A MANE Select	NP_001026.2:p.His3174Gln
ENST00000366574.7:c.9522T>A MANE Select	ENSP00000355533.2:p.His3174Gln
NM_001035.2:c.9522T>A	NP_001026.2:p.His3174Gln
ENST00000360064.7:c.9474T>A	ENSP00000353174.7:p.His3158Gln
ENST00000366574.6:c.9522T>A	ENSP00000355533.2:p.His3174Gln
ENST00000609119.1:n.660T>A
ENST00000609119.2:c.*557T>A	ENSP00000499659.2:n.*557T>A
ENST00000659194.1:c.1711T>A
ENST00000659194.2:c.1711T>A
ENST00000659194.3:c.9522T>A	ENSP00000499653.3:p.His3174Gln
ENST00000660292.2:c.9522T>A	ENSP00000499787.2:p.His3174Gln
XM_006711802.2:c.9552T>A	XP_006711865.1:p.His3184Gln
XM_006711802.3:c.9552T>A	XP_006711865.1:p.His3184Gln
XM_006711803.2:c.9549T>A	XP_006711866.1:p.His3183Gln
XM_006711803.3:c.9549T>A	XP_006711866.1:p.His3183Gln
XM_006711804.2:c.9552T>A	XP_006711867.1:p.His3184Gln
XM_006711804.3:c.9552T>A	XP_006711867.1:p.His3184Gln
XM_006711805.2:c.9522T>A	XP_006711868.1:p.His3174Gln
XM_006711805.3:c.9522T>A	XP_006711868.1:p.His3174Gln
XM_006711806.2:c.9552T>A	XP_006711869.1:p.His3184Gln
XM_006711806.3:c.9552T>A	XP_006711869.1:p.His3184Gln
XM_006711807.2:c.9552T>A	XP_006711870.1:p.His3184Gln
XM_006711807.3:c.9552T>A	XP_006711870.1:p.His3184Gln
XM_006711808.2:c.9315T>A	XP_006711871.1:p.His3105Gln
XM_006711808.3:c.9315T>A	XP_006711871.1:p.His3105Gln
XM_006711810.2:c.9519T>A	XP_006711873.1:p.His3173Gln
XM_006711810.3:c.9519T>A	XP_006711873.1:p.His3173Gln
XM_017002028.1:c.9531T>A	XP_016857517.1:p.His3177Gln
XR_949152.1:n.9783T>A
XR_949152.2:n.9816T>A