Canonical Allele Identifier: CA345409232

Gene: RYR2

Linked Data

• ClinVar Variation Id: 921972
• ClinVar RCV Id: RCV001181735
• dbSNP Id: rs1694860715
• MyVariant Identifiers: chr1:g.237942012G>C (hg19) ; chr1:g.237778712G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2914G>C	ENSP00000499659.2:n.*2914G>C
ENST00000659194.3:c.11810G>C	ENSP00000499653.3:p.Trp3937Ser
ENST00000660292.2:c.11843G>C	ENSP00000499787.2:p.Trp3948Ser
ENST00000659194.2:c.3999G>C
ENST00000366574.7:c.11822G>C MANE Select	ENSP00000355533.2:p.Trp3941Ser
ENST00000659194.1:c.3999G>C
ENST00000660292.1:c.1875G>C
ENST00000360064.7:c.11774G>C	ENSP00000353174.7:p.Trp3925Ser
ENST00000366574.6:c.11822G>C	ENSP00000355533.2:p.Trp3941Ser
ENST00000609119.1:n.3017G>C
NM_001035.2:c.11822G>C	NP_001026.2:p.Trp3941Ser
XM_006711802.2:c.11876G>C	XP_006711865.1:p.Trp3959Ser
XM_006711803.2:c.11873G>C	XP_006711866.1:p.Trp3958Ser
XM_006711804.2:c.11852G>C	XP_006711867.1:p.Trp3951Ser
XM_006711805.2:c.11846G>C	XP_006711868.1:p.Trp3949Ser
XM_006711806.2:c.11840G>C	XP_006711869.1:p.Trp3947Ser
XM_006711807.2:c.11816G>C	XP_006711870.1:p.Trp3939Ser
XM_006711808.2:c.11639G>C	XP_006711871.1:p.Trp3880Ser
XM_006711810.2:c.11783G>C	XP_006711873.1:p.Trp3928Ser
XM_006711802.3:c.11876G>C	XP_006711865.1:p.Trp3959Ser
XM_006711803.3:c.11873G>C	XP_006711866.1:p.Trp3958Ser
XM_006711804.3:c.11852G>C	XP_006711867.1:p.Trp3951Ser
XM_006711805.3:c.11846G>C	XP_006711868.1:p.Trp3949Ser
XM_006711806.3:c.11840G>C	XP_006711869.1:p.Trp3947Ser
XM_006711807.3:c.11816G>C	XP_006711870.1:p.Trp3939Ser
XM_006711808.3:c.11639G>C	XP_006711871.1:p.Trp3880Ser
XM_006711810.3:c.11783G>C	XP_006711873.1:p.Trp3928Ser
XM_017002028.1:c.11855G>C	XP_016857517.1:p.Trp3952Ser
NM_001035.3:c.11822G>C MANE Select	NP_001026.2:p.Trp3941Ser