Canonical Allele Identifier: CA345407219

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237772075C>T , CM000663.2:g.237772075C>T	GRCh38
NC_000001.10:g.237935375C>T , CM000663.1:g.237935375C>T	GRCh37
NC_000001.9:g.236001998C>T	NCBI36
NG_008799.2:g.734674C>T
NG_008799.3:g.734892C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11621C>T MANE Select	NP_001026.2:p.Thr3874Ile
ENST00000366574.7:c.11621C>T MANE Select	ENSP00000355533.2:p.Thr3874Ile
NM_001035.2:c.11621C>T	NP_001026.2:p.Thr3874Ile
ENST00000360064.7:c.11573C>T	ENSP00000353174.7:p.Thr3858Ile
ENST00000366574.6:c.11621C>T	ENSP00000355533.2:p.Thr3874Ile
ENST00000609119.1:n.2816C>T
ENST00000609119.2:c.*2713C>T	ENSP00000499659.2:n.*2713C>T
ENST00000659194.1:c.3798C>T
ENST00000659194.2:c.3798C>T
ENST00000659194.3:c.11609C>T	ENSP00000499653.3:p.Thr3870Ile
ENST00000660292.1:c.1674C>T
ENST00000660292.2:c.11642C>T	ENSP00000499787.2:p.Thr3881Ile
XM_006711802.2:c.11675C>T	XP_006711865.1:p.Thr3892Ile
XM_006711802.3:c.11675C>T	XP_006711865.1:p.Thr3892Ile
XM_006711803.2:c.11672C>T	XP_006711866.1:p.Thr3891Ile
XM_006711803.3:c.11672C>T	XP_006711866.1:p.Thr3891Ile
XM_006711804.2:c.11651C>T	XP_006711867.1:p.Thr3884Ile
XM_006711804.3:c.11651C>T	XP_006711867.1:p.Thr3884Ile
XM_006711805.2:c.11645C>T	XP_006711868.1:p.Thr3882Ile
XM_006711805.3:c.11645C>T	XP_006711868.1:p.Thr3882Ile
XM_006711806.2:c.11639C>T	XP_006711869.1:p.Thr3880Ile
XM_006711806.3:c.11639C>T	XP_006711869.1:p.Thr3880Ile
XM_006711807.2:c.11615C>T	XP_006711870.1:p.Thr3872Ile
XM_006711807.3:c.11615C>T	XP_006711870.1:p.Thr3872Ile
XM_006711808.2:c.11438C>T	XP_006711871.1:p.Thr3813Ile
XM_006711808.3:c.11438C>T	XP_006711871.1:p.Thr3813Ile
XM_006711810.2:c.11582C>T	XP_006711873.1:p.Thr3861Ile
XM_006711810.3:c.11582C>T	XP_006711873.1:p.Thr3861Ile
XM_017002028.1:c.11654C>T	XP_016857517.1:p.Thr3885Ile