Canonical Allele Identifier: CA345413748

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947626A>C (hg19) ; chr1:g.237784326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784326A>C , CM000663.2:g.237784326A>C	GRCh38
NC_000001.10:g.237947626A>C , CM000663.1:g.237947626A>C	GRCh37
NC_000001.9:g.236014249A>C	NCBI36
NG_008799.2:g.746925A>C
NG_008799.3:g.747143A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3706A>C	ENSP00000499659.2:n.*3706A>C
ENST00000659194.3:c.12602A>C	ENSP00000499653.3:p.Gln4201Pro
ENST00000660292.2:c.12635A>C	ENSP00000499787.2:p.Gln4212Pro
ENST00000659194.2:c.4791A>C
ENST00000366574.7:c.12614A>C MANE Select	ENSP00000355533.2:p.Gln4205Pro
ENST00000659194.1:c.4791A>C
ENST00000660292.1:c.2667A>C
ENST00000360064.7:c.12566A>C	ENSP00000353174.7:p.Gln4189Pro
ENST00000366574.6:c.12614A>C	ENSP00000355533.2:p.Gln4205Pro
ENST00000609119.1:n.3809A>C
NM_001035.2:c.12614A>C	NP_001026.2:p.Gln4205Pro
XM_006711802.2:c.12668A>C	XP_006711865.1:p.Gln4223Pro
XM_006711803.2:c.12665A>C	XP_006711866.1:p.Gln4222Pro
XM_006711804.2:c.12644A>C	XP_006711867.1:p.Gln4215Pro
XM_006711805.2:c.12638A>C	XP_006711868.1:p.Gln4213Pro
XM_006711806.2:c.12632A>C	XP_006711869.1:p.Gln4211Pro
XM_006711807.2:c.12608A>C	XP_006711870.1:p.Gln4203Pro
XM_006711808.2:c.12431A>C	XP_006711871.1:p.Gln4144Pro
XM_006711810.2:c.12575A>C	XP_006711873.1:p.Gln4192Pro
XM_006711802.3:c.12668A>C	XP_006711865.1:p.Gln4223Pro
XM_006711803.3:c.12665A>C	XP_006711866.1:p.Gln4222Pro
XM_006711804.3:c.12644A>C	XP_006711867.1:p.Gln4215Pro
XM_006711805.3:c.12638A>C	XP_006711868.1:p.Gln4213Pro
XM_006711806.3:c.12632A>C	XP_006711869.1:p.Gln4211Pro
XM_006711807.3:c.12608A>C	XP_006711870.1:p.Gln4203Pro
XM_006711808.3:c.12431A>C	XP_006711871.1:p.Gln4144Pro
XM_006711810.3:c.12575A>C	XP_006711873.1:p.Gln4192Pro
XM_017002028.1:c.12647A>C	XP_016857517.1:p.Gln4216Pro
NM_001035.3:c.12614A>C MANE Select	NP_001026.2:p.Gln4205Pro