Canonical Allele Identifier: CA345413003

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947350C>T (hg19) ; chr1:g.237784050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784050C>T , CM000663.2:g.237784050C>T	GRCh38
NC_000001.10:g.237947350C>T , CM000663.1:g.237947350C>T	GRCh37
NC_000001.9:g.236013973C>T	NCBI36
NG_008799.2:g.746649C>T
NG_008799.3:g.746867C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3430C>T	ENSP00000499659.2:n.*3430C>T
ENST00000659194.3:c.12326C>T	ENSP00000499653.3:p.Thr4109Ile
ENST00000660292.2:c.12359C>T	ENSP00000499787.2:p.Thr4120Ile
ENST00000659194.2:c.4515C>T
ENST00000366574.7:c.12338C>T MANE Select	ENSP00000355533.2:p.Thr4113Ile
ENST00000659194.1:c.4515C>T
ENST00000660292.1:c.2391C>T
ENST00000360064.7:c.12290C>T	ENSP00000353174.7:p.Thr4097Ile
ENST00000366574.6:c.12338C>T	ENSP00000355533.2:p.Thr4113Ile
ENST00000609119.1:n.3533C>T
NM_001035.2:c.12338C>T	NP_001026.2:p.Thr4113Ile
XM_006711802.2:c.12392C>T	XP_006711865.1:p.Thr4131Ile
XM_006711803.2:c.12389C>T	XP_006711866.1:p.Thr4130Ile
XM_006711804.2:c.12368C>T	XP_006711867.1:p.Thr4123Ile
XM_006711805.2:c.12362C>T	XP_006711868.1:p.Thr4121Ile
XM_006711806.2:c.12356C>T	XP_006711869.1:p.Thr4119Ile
XM_006711807.2:c.12332C>T	XP_006711870.1:p.Thr4111Ile
XM_006711808.2:c.12155C>T	XP_006711871.1:p.Thr4052Ile
XM_006711810.2:c.12299C>T	XP_006711873.1:p.Thr4100Ile
XM_006711802.3:c.12392C>T	XP_006711865.1:p.Thr4131Ile
XM_006711803.3:c.12389C>T	XP_006711866.1:p.Thr4130Ile
XM_006711804.3:c.12368C>T	XP_006711867.1:p.Thr4123Ile
XM_006711805.3:c.12362C>T	XP_006711868.1:p.Thr4121Ile
XM_006711806.3:c.12356C>T	XP_006711869.1:p.Thr4119Ile
XM_006711807.3:c.12332C>T	XP_006711870.1:p.Thr4111Ile
XM_006711808.3:c.12155C>T	XP_006711871.1:p.Thr4052Ile
XM_006711810.3:c.12299C>T	XP_006711873.1:p.Thr4100Ile
XM_017002028.1:c.12371C>T	XP_016857517.1:p.Thr4124Ile
NM_001035.3:c.12338C>T MANE Select	NP_001026.2:p.Thr4113Ile