Canonical Allele Identifier: CA084880

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237757701A>C , CM000663.2:g.237757701A>C	GRCh38
NC_000001.10:g.237921001A>C , CM000663.1:g.237921001A>C	GRCh37
NC_000001.9:g.235987624A>C	NCBI36
NG_008799.2:g.720300A>C
NG_008799.3:g.720518A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.11250A>C MANE Select	NP_001026.2:p.Glu3750Asp
ENST00000366574.7:c.11250A>C MANE Select	ENSP00000355533.2:p.Glu3750Asp
NM_001035.2:c.11250A>C	NP_001026.2:p.Glu3750Asp
ENST00000360064.7:c.11202A>C	ENSP00000353174.7:p.Glu3734Asp
ENST00000366574.6:c.11250A>C	ENSP00000355533.2:p.Glu3750Asp
ENST00000609119.1:n.2445A>C
ENST00000609119.2:c.*2342A>C	ENSP00000499659.2:n.*2342A>C
ENST00000659194.1:c.3427A>C
ENST00000659194.2:c.3427A>C
ENST00000659194.3:c.11238A>C	ENSP00000499653.3:p.Glu3746Asp
ENST00000660292.1:c.1270A>C
ENST00000660292.2:c.11238A>C	ENSP00000499787.2:p.Glu3746Asp
XM_006711802.2:c.11304A>C	XP_006711865.1:p.Glu3768Asp
XM_006711802.3:c.11304A>C	XP_006711865.1:p.Glu3768Asp
XM_006711803.2:c.11301A>C	XP_006711866.1:p.Glu3767Asp
XM_006711803.3:c.11301A>C	XP_006711866.1:p.Glu3767Asp
XM_006711804.2:c.11280A>C	XP_006711867.1:p.Glu3760Asp
XM_006711804.3:c.11280A>C	XP_006711867.1:p.Glu3760Asp
XM_006711805.2:c.11274A>C	XP_006711868.1:p.Glu3758Asp
XM_006711805.3:c.11274A>C	XP_006711868.1:p.Glu3758Asp
XM_006711806.2:c.11268A>C	XP_006711869.1:p.Glu3756Asp
XM_006711806.3:c.11268A>C	XP_006711869.1:p.Glu3756Asp
XM_006711807.2:c.11244A>C	XP_006711870.1:p.Glu3748Asp
XM_006711807.3:c.11244A>C	XP_006711870.1:p.Glu3748Asp
XM_006711808.2:c.11067A>C	XP_006711871.1:p.Glu3689Asp
XM_006711808.3:c.11067A>C	XP_006711871.1:p.Glu3689Asp
XM_006711810.2:c.11211A>C	XP_006711873.1:p.Glu3737Asp
XM_006711810.3:c.11211A>C	XP_006711873.1:p.Glu3737Asp
XM_017002028.1:c.11283A>C	XP_016857517.1:p.Glu3761Asp