Canonical Allele Identifier: CA345413108

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947400C>A (hg19) ; chr1:g.237784100C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784100C>A , CM000663.2:g.237784100C>A	GRCh38
NC_000001.10:g.237947400C>A , CM000663.1:g.237947400C>A	GRCh37
NC_000001.9:g.236014023C>A	NCBI36
NG_008799.2:g.746699C>A
NG_008799.3:g.746917C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3480C>A	ENSP00000499659.2:n.*3480C>A
ENST00000659194.3:c.12376C>A	ENSP00000499653.3:p.Gln4126Lys
ENST00000660292.2:c.12409C>A	ENSP00000499787.2:p.Gln4137Lys
ENST00000659194.2:c.4565C>A
ENST00000366574.7:c.12388C>A MANE Select	ENSP00000355533.2:p.Gln4130Lys
ENST00000659194.1:c.4565C>A
ENST00000660292.1:c.2441C>A
ENST00000360064.7:c.12340C>A	ENSP00000353174.7:p.Gln4114Lys
ENST00000366574.6:c.12388C>A	ENSP00000355533.2:p.Gln4130Lys
ENST00000609119.1:n.3583C>A
NM_001035.2:c.12388C>A	NP_001026.2:p.Gln4130Lys
XM_006711802.2:c.12442C>A	XP_006711865.1:p.Gln4148Lys
XM_006711803.2:c.12439C>A	XP_006711866.1:p.Gln4147Lys
XM_006711804.2:c.12418C>A	XP_006711867.1:p.Gln4140Lys
XM_006711805.2:c.12412C>A	XP_006711868.1:p.Gln4138Lys
XM_006711806.2:c.12406C>A	XP_006711869.1:p.Gln4136Lys
XM_006711807.2:c.12382C>A	XP_006711870.1:p.Gln4128Lys
XM_006711808.2:c.12205C>A	XP_006711871.1:p.Gln4069Lys
XM_006711810.2:c.12349C>A	XP_006711873.1:p.Gln4117Lys
XM_006711802.3:c.12442C>A	XP_006711865.1:p.Gln4148Lys
XM_006711803.3:c.12439C>A	XP_006711866.1:p.Gln4147Lys
XM_006711804.3:c.12418C>A	XP_006711867.1:p.Gln4140Lys
XM_006711805.3:c.12412C>A	XP_006711868.1:p.Gln4138Lys
XM_006711806.3:c.12406C>A	XP_006711869.1:p.Gln4136Lys
XM_006711807.3:c.12382C>A	XP_006711870.1:p.Gln4128Lys
XM_006711808.3:c.12205C>A	XP_006711871.1:p.Gln4069Lys
XM_006711810.3:c.12349C>A	XP_006711873.1:p.Gln4117Lys
XM_017002028.1:c.12421C>A	XP_016857517.1:p.Gln4141Lys
NM_001035.3:c.12388C>A MANE Select	NP_001026.2:p.Gln4130Lys