Canonical Allele Identifier: CA345409229

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2572801
• ClinVar RCV Id: RCV003314915
• MyVariant Identifiers: chr1:g.237942012G>A (hg19) ; chr1:g.237778712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778712G>A , CM000663.2:g.237778712G>A	GRCh38
NC_000001.10:g.237942012G>A , CM000663.1:g.237942012G>A	GRCh37
NC_000001.9:g.236008635G>A	NCBI36
NG_008799.2:g.741311G>A
NG_008799.3:g.741529G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2914G>A	ENSP00000499659.2:n.*2914G>A
ENST00000659194.3:c.11810G>A	ENSP00000499653.3:p.Trp3937Ter
ENST00000660292.2:c.11843G>A	ENSP00000499787.2:p.Trp3948Ter
ENST00000659194.2:c.3999G>A
ENST00000366574.7:c.11822G>A MANE Select	ENSP00000355533.2:p.Trp3941Ter
ENST00000659194.1:c.3999G>A
ENST00000660292.1:c.1875G>A
ENST00000360064.7:c.11774G>A	ENSP00000353174.7:p.Trp3925Ter
ENST00000366574.6:c.11822G>A	ENSP00000355533.2:p.Trp3941Ter
ENST00000609119.1:n.3017G>A
NM_001035.2:c.11822G>A	NP_001026.2:p.Trp3941Ter
XM_006711802.2:c.11876G>A	XP_006711865.1:p.Trp3959Ter
XM_006711803.2:c.11873G>A	XP_006711866.1:p.Trp3958Ter
XM_006711804.2:c.11852G>A	XP_006711867.1:p.Trp3951Ter
XM_006711805.2:c.11846G>A	XP_006711868.1:p.Trp3949Ter
XM_006711806.2:c.11840G>A	XP_006711869.1:p.Trp3947Ter
XM_006711807.2:c.11816G>A	XP_006711870.1:p.Trp3939Ter
XM_006711808.2:c.11639G>A	XP_006711871.1:p.Trp3880Ter
XM_006711810.2:c.11783G>A	XP_006711873.1:p.Trp3928Ter
XM_006711802.3:c.11876G>A	XP_006711865.1:p.Trp3959Ter
XM_006711803.3:c.11873G>A	XP_006711866.1:p.Trp3958Ter
XM_006711804.3:c.11852G>A	XP_006711867.1:p.Trp3951Ter
XM_006711805.3:c.11846G>A	XP_006711868.1:p.Trp3949Ter
XM_006711806.3:c.11840G>A	XP_006711869.1:p.Trp3947Ter
XM_006711807.3:c.11816G>A	XP_006711870.1:p.Trp3939Ter
XM_006711808.3:c.11639G>A	XP_006711871.1:p.Trp3880Ter
XM_006711810.3:c.11783G>A	XP_006711873.1:p.Trp3928Ter
XM_017002028.1:c.11855G>A	XP_016857517.1:p.Trp3952Ter
NM_001035.3:c.11822G>A MANE Select	NP_001026.2:p.Trp3941Ter