Canonical Allele Identifier: CA345409259

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237942015A>T (hg19) ; chr1:g.237778715A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778715A>T , CM000663.2:g.237778715A>T	GRCh38
NC_000001.10:g.237942015A>T , CM000663.1:g.237942015A>T	GRCh37
NC_000001.9:g.236008638A>T	NCBI36
NG_008799.2:g.741314A>T
NG_008799.3:g.741532A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2917A>T	ENSP00000499659.2:n.*2917A>T
ENST00000659194.3:c.11813A>T	ENSP00000499653.3:p.Asp3938Val
ENST00000660292.2:c.11846A>T	ENSP00000499787.2:p.Asp3949Val
ENST00000659194.2:c.4002A>T
ENST00000366574.7:c.11825A>T MANE Select	ENSP00000355533.2:p.Asp3942Val
ENST00000659194.1:c.4002A>T
ENST00000660292.1:c.1878A>T
ENST00000360064.7:c.11777A>T	ENSP00000353174.7:p.Asp3926Val
ENST00000366574.6:c.11825A>T	ENSP00000355533.2:p.Asp3942Val
ENST00000609119.1:n.3020A>T
NM_001035.2:c.11825A>T	NP_001026.2:p.Asp3942Val
XM_006711802.2:c.11879A>T	XP_006711865.1:p.Asp3960Val
XM_006711803.2:c.11876A>T	XP_006711866.1:p.Asp3959Val
XM_006711804.2:c.11855A>T	XP_006711867.1:p.Asp3952Val
XM_006711805.2:c.11849A>T	XP_006711868.1:p.Asp3950Val
XM_006711806.2:c.11843A>T	XP_006711869.1:p.Asp3948Val
XM_006711807.2:c.11819A>T	XP_006711870.1:p.Asp3940Val
XM_006711808.2:c.11642A>T	XP_006711871.1:p.Asp3881Val
XM_006711810.2:c.11786A>T	XP_006711873.1:p.Asp3929Val
XM_006711802.3:c.11879A>T	XP_006711865.1:p.Asp3960Val
XM_006711803.3:c.11876A>T	XP_006711866.1:p.Asp3959Val
XM_006711804.3:c.11855A>T	XP_006711867.1:p.Asp3952Val
XM_006711805.3:c.11849A>T	XP_006711868.1:p.Asp3950Val
XM_006711806.3:c.11843A>T	XP_006711869.1:p.Asp3948Val
XM_006711807.3:c.11819A>T	XP_006711870.1:p.Asp3940Val
XM_006711808.3:c.11642A>T	XP_006711871.1:p.Asp3881Val
XM_006711810.3:c.11786A>T	XP_006711873.1:p.Asp3929Val
XM_017002028.1:c.11858A>T	XP_016857517.1:p.Asp3953Val
NM_001035.3:c.11825A>T MANE Select	NP_001026.2:p.Asp3942Val