Canonical Allele Identifier: CA345416241

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237723253T>G , CM000663.2:g.237723253T>G	GRCh38
NC_000001.10:g.237886553T>G , CM000663.1:g.237886553T>G	GRCh37
NC_000001.9:g.235953176T>G	NCBI36
NG_008799.2:g.685852T>G
NG_008799.3:g.686070T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1715T>G	ENSP00000499659.2:n.*1715T>G
ENST00000659194.3:c.10680T>G	ENSP00000499653.3:p.His3560Gln
ENST00000660292.2:c.10680T>G	ENSP00000499787.2:p.His3560Gln
ENST00000659194.2:c.2869T>G
ENST00000366574.7:c.10680T>G MANE Select	ENSP00000355533.2:p.His3560Gln
ENST00000659194.1:c.2869T>G
ENST00000660292.1:c.712T>G
ENST00000661330.1:c.487T>G
ENST00000360064.7:c.10632T>G	ENSP00000353174.7:p.His3544Gln
ENST00000366574.6:c.10680T>G	ENSP00000355533.2:p.His3560Gln
ENST00000609119.1:n.1818T>G
ENST00000609253.1:n.43T>G
NM_001035.2:c.10680T>G	NP_001026.2:p.His3560Gln
XM_006711802.2:c.10710T>G	XP_006711865.1:p.His3570Gln
XM_006711803.2:c.10707T>G	XP_006711866.1:p.His3569Gln
XM_006711804.2:c.10710T>G	XP_006711867.1:p.His3570Gln
XM_006711805.2:c.10680T>G	XP_006711868.1:p.His3560Gln
XM_006711806.2:c.10710T>G	XP_006711869.1:p.His3570Gln
XM_006711807.2:c.10710T>G	XP_006711870.1:p.His3570Gln
XM_006711808.2:c.10473T>G	XP_006711871.1:p.His3491Gln
XM_006711810.2:c.10677T>G	XP_006711873.1:p.His3559Gln
XM_006711802.3:c.10710T>G	XP_006711865.1:p.His3570Gln
XM_006711803.3:c.10707T>G	XP_006711866.1:p.His3569Gln
XM_006711804.3:c.10710T>G	XP_006711867.1:p.His3570Gln
XM_006711805.3:c.10680T>G	XP_006711868.1:p.His3560Gln
XM_006711806.3:c.10710T>G	XP_006711869.1:p.His3570Gln
XM_006711807.3:c.10710T>G	XP_006711870.1:p.His3570Gln
XM_006711808.3:c.10473T>G	XP_006711871.1:p.His3491Gln
XM_006711810.3:c.10677T>G	XP_006711873.1:p.His3559Gln
XM_017002028.1:c.10689T>G	XP_016857517.1:p.His3563Gln
NM_001035.3:c.10680T>G MANE Select	NP_001026.2:p.His3560Gln