Canonical Allele Identifier: CA345412877

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947292A>T (hg19) ; chr1:g.237783992A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783992A>T , CM000663.2:g.237783992A>T	GRCh38
NC_000001.10:g.237947292A>T , CM000663.1:g.237947292A>T	GRCh37
NC_000001.9:g.236013915A>T	NCBI36
NG_008799.2:g.746591A>T
NG_008799.3:g.746809A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3372A>T	ENSP00000499659.2:n.*3372A>T
ENST00000659194.3:c.12268A>T	ENSP00000499653.3:p.Ile4090Phe
ENST00000660292.2:c.12301A>T	ENSP00000499787.2:p.Ile4101Phe
ENST00000659194.2:c.4457A>T
ENST00000366574.7:c.12280A>T MANE Select	ENSP00000355533.2:p.Ile4094Phe
ENST00000659194.1:c.4457A>T
ENST00000660292.1:c.2333A>T
ENST00000360064.7:c.12232A>T	ENSP00000353174.7:p.Ile4078Phe
ENST00000366574.6:c.12280A>T	ENSP00000355533.2:p.Ile4094Phe
ENST00000609119.1:n.3475A>T
NM_001035.2:c.12280A>T	NP_001026.2:p.Ile4094Phe
XM_006711802.2:c.12334A>T	XP_006711865.1:p.Ile4112Phe
XM_006711803.2:c.12331A>T	XP_006711866.1:p.Ile4111Phe
XM_006711804.2:c.12310A>T	XP_006711867.1:p.Ile4104Phe
XM_006711805.2:c.12304A>T	XP_006711868.1:p.Ile4102Phe
XM_006711806.2:c.12298A>T	XP_006711869.1:p.Ile4100Phe
XM_006711807.2:c.12274A>T	XP_006711870.1:p.Ile4092Phe
XM_006711808.2:c.12097A>T	XP_006711871.1:p.Ile4033Phe
XM_006711810.2:c.12241A>T	XP_006711873.1:p.Ile4081Phe
XM_006711802.3:c.12334A>T	XP_006711865.1:p.Ile4112Phe
XM_006711803.3:c.12331A>T	XP_006711866.1:p.Ile4111Phe
XM_006711804.3:c.12310A>T	XP_006711867.1:p.Ile4104Phe
XM_006711805.3:c.12304A>T	XP_006711868.1:p.Ile4102Phe
XM_006711806.3:c.12298A>T	XP_006711869.1:p.Ile4100Phe
XM_006711807.3:c.12274A>T	XP_006711870.1:p.Ile4092Phe
XM_006711808.3:c.12097A>T	XP_006711871.1:p.Ile4033Phe
XM_006711810.3:c.12241A>T	XP_006711873.1:p.Ile4081Phe
XM_017002028.1:c.12313A>T	XP_016857517.1:p.Ile4105Phe
NM_001035.3:c.12280A>T MANE Select	NP_001026.2:p.Ile4094Phe