Canonical Allele Identifier: CA345409900

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237831526G>T , CM000663.2:g.237831526G>T	GRCh38
NC_000001.10:g.237994826G>T , CM000663.1:g.237994826G>T	GRCh37
NC_000001.9:g.236061449G>T	NCBI36
NG_008799.2:g.794125G>T
NG_008799.3:g.794343G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14769G>T MANE Select	NP_001026.2:p.Met4923Ile
ENST00000366574.7:c.14769G>T MANE Select	ENSP00000355533.2:p.Met4923Ile
NM_001035.2:c.14769G>T	NP_001026.2:p.Met4923Ile
ENST00000360064.7:c.14718G>T	ENSP00000353174.7:p.Met4906Ile
ENST00000366574.6:c.14769G>T	ENSP00000355533.2:p.Met4923Ile
ENST00000462585.1:n.612G>T
ENST00000608590.5:n.1179G>T
ENST00000609119.2:c.*5861G>T	ENSP00000499659.2:n.*5861G>T
ENST00000659194.2:c.6940G>T
ENST00000659194.3:c.14751G>T	ENSP00000499653.3:p.Met4917Ile
ENST00000660292.2:c.14790G>T	ENSP00000499787.2:p.Met4930Ile
XM_006711802.2:c.14823G>T	XP_006711865.1:p.Met4941Ile
XM_006711802.3:c.14823G>T	XP_006711865.1:p.Met4941Ile
XM_006711803.2:c.14820G>T	XP_006711866.1:p.Met4940Ile
XM_006711803.3:c.14820G>T	XP_006711866.1:p.Met4940Ile
XM_006711804.2:c.14799G>T	XP_006711867.1:p.Met4933Ile
XM_006711804.3:c.14799G>T	XP_006711867.1:p.Met4933Ile
XM_006711805.2:c.14793G>T	XP_006711868.1:p.Met4931Ile
XM_006711805.3:c.14793G>T	XP_006711868.1:p.Met4931Ile
XM_006711806.2:c.14787G>T	XP_006711869.1:p.Met4929Ile
XM_006711806.3:c.14787G>T	XP_006711869.1:p.Met4929Ile
XM_006711807.2:c.14763G>T	XP_006711870.1:p.Met4921Ile
XM_006711807.3:c.14763G>T	XP_006711870.1:p.Met4921Ile
XM_006711808.2:c.14586G>T	XP_006711871.1:p.Met4862Ile
XM_006711808.3:c.14586G>T	XP_006711871.1:p.Met4862Ile
XM_006711810.2:c.14730G>T	XP_006711873.1:p.Met4910Ile
XM_006711810.3:c.14730G>T	XP_006711873.1:p.Met4910Ile
XM_017002028.1:c.14802G>T	XP_016857517.1:p.Met4934Ile