Canonical Allele Identifier: CA345413159

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947423A>T (hg19) ; chr1:g.237784123A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784123A>T , CM000663.2:g.237784123A>T	GRCh38
NC_000001.10:g.237947423A>T , CM000663.1:g.237947423A>T	GRCh37
NC_000001.9:g.236014046A>T	NCBI36
NG_008799.2:g.746722A>T
NG_008799.3:g.746940A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3503A>T	ENSP00000499659.2:n.*3503A>T
ENST00000659194.3:c.12399A>T	ENSP00000499653.3:p.Glu4133Asp
ENST00000660292.2:c.12432A>T	ENSP00000499787.2:p.Glu4144Asp
ENST00000659194.2:c.4588A>T
ENST00000366574.7:c.12411A>T MANE Select	ENSP00000355533.2:p.Glu4137Asp
ENST00000659194.1:c.4588A>T
ENST00000660292.1:c.2464A>T
ENST00000360064.7:c.12363A>T	ENSP00000353174.7:p.Glu4121Asp
ENST00000366574.6:c.12411A>T	ENSP00000355533.2:p.Glu4137Asp
ENST00000609119.1:n.3606A>T
NM_001035.2:c.12411A>T	NP_001026.2:p.Glu4137Asp
XM_006711802.2:c.12465A>T	XP_006711865.1:p.Glu4155Asp
XM_006711803.2:c.12462A>T	XP_006711866.1:p.Glu4154Asp
XM_006711804.2:c.12441A>T	XP_006711867.1:p.Glu4147Asp
XM_006711805.2:c.12435A>T	XP_006711868.1:p.Glu4145Asp
XM_006711806.2:c.12429A>T	XP_006711869.1:p.Glu4143Asp
XM_006711807.2:c.12405A>T	XP_006711870.1:p.Glu4135Asp
XM_006711808.2:c.12228A>T	XP_006711871.1:p.Glu4076Asp
XM_006711810.2:c.12372A>T	XP_006711873.1:p.Glu4124Asp
XM_006711802.3:c.12465A>T	XP_006711865.1:p.Glu4155Asp
XM_006711803.3:c.12462A>T	XP_006711866.1:p.Glu4154Asp
XM_006711804.3:c.12441A>T	XP_006711867.1:p.Glu4147Asp
XM_006711805.3:c.12435A>T	XP_006711868.1:p.Glu4145Asp
XM_006711806.3:c.12429A>T	XP_006711869.1:p.Glu4143Asp
XM_006711807.3:c.12405A>T	XP_006711870.1:p.Glu4135Asp
XM_006711808.3:c.12228A>T	XP_006711871.1:p.Glu4076Asp
XM_006711810.3:c.12372A>T	XP_006711873.1:p.Glu4124Asp
XM_017002028.1:c.12444A>T	XP_016857517.1:p.Glu4148Asp
NM_001035.3:c.12411A>T MANE Select	NP_001026.2:p.Glu4137Asp