Canonical Allele Identifier: CA345409187

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237942005A>G (hg19) ; chr1:g.237778705A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778705A>G , CM000663.2:g.237778705A>G	GRCh38
NC_000001.10:g.237942005A>G , CM000663.1:g.237942005A>G	GRCh37
NC_000001.9:g.236008628A>G	NCBI36
NG_008799.2:g.741304A>G
NG_008799.3:g.741522A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2907A>G	ENSP00000499659.2:n.*2907A>G
ENST00000659194.3:c.11803A>G	ENSP00000499653.3:p.Arg3935Gly
ENST00000660292.2:c.11836A>G	ENSP00000499787.2:p.Arg3946Gly
ENST00000659194.2:c.3992A>G
ENST00000366574.7:c.11815A>G MANE Select	ENSP00000355533.2:p.Arg3939Gly
ENST00000659194.1:c.3992A>G
ENST00000660292.1:c.1868A>G
ENST00000360064.7:c.11767A>G	ENSP00000353174.7:p.Arg3923Gly
ENST00000366574.6:c.11815A>G	ENSP00000355533.2:p.Arg3939Gly
ENST00000609119.1:n.3010A>G
NM_001035.2:c.11815A>G	NP_001026.2:p.Arg3939Gly
XM_006711802.2:c.11869A>G	XP_006711865.1:p.Arg3957Gly
XM_006711803.2:c.11866A>G	XP_006711866.1:p.Arg3956Gly
XM_006711804.2:c.11845A>G	XP_006711867.1:p.Arg3949Gly
XM_006711805.2:c.11839A>G	XP_006711868.1:p.Arg3947Gly
XM_006711806.2:c.11833A>G	XP_006711869.1:p.Arg3945Gly
XM_006711807.2:c.11809A>G	XP_006711870.1:p.Arg3937Gly
XM_006711808.2:c.11632A>G	XP_006711871.1:p.Arg3878Gly
XM_006711810.2:c.11776A>G	XP_006711873.1:p.Arg3926Gly
XM_006711802.3:c.11869A>G	XP_006711865.1:p.Arg3957Gly
XM_006711803.3:c.11866A>G	XP_006711866.1:p.Arg3956Gly
XM_006711804.3:c.11845A>G	XP_006711867.1:p.Arg3949Gly
XM_006711805.3:c.11839A>G	XP_006711868.1:p.Arg3947Gly
XM_006711806.3:c.11833A>G	XP_006711869.1:p.Arg3945Gly
XM_006711807.3:c.11809A>G	XP_006711870.1:p.Arg3937Gly
XM_006711808.3:c.11632A>G	XP_006711871.1:p.Arg3878Gly
XM_006711810.3:c.11776A>G	XP_006711873.1:p.Arg3926Gly
XM_017002028.1:c.11848A>G	XP_016857517.1:p.Arg3950Gly
NM_001035.3:c.11815A>G MANE Select	NP_001026.2:p.Arg3939Gly