Canonical Allele Identifier: CA007170

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201188
• ClinVar RCV Id: RCV000182651 ; RCV002517785
• dbSNP Id: rs794728704
• MyVariant Identifiers: chr1:g.237942004C>A (hg19) ; chr1:g.237778704C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778704C>A , CM000663.2:g.237778704C>A	GRCh38
NC_000001.10:g.237942004C>A , CM000663.1:g.237942004C>A	GRCh37
NC_000001.9:g.236008627C>A	NCBI36
NG_008799.2:g.741303C>A
NG_008799.3:g.741521C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2906C>A	ENSP00000499659.2:n.*2906C>A
ENST00000659194.3:c.11802C>A	ENSP00000499653.3:p.Ser3934Arg
ENST00000660292.2:c.11835C>A	ENSP00000499787.2:p.Ser3945Arg
ENST00000659194.2:c.3991C>A
ENST00000366574.7:c.11814C>A MANE Select	ENSP00000355533.2:p.Ser3938Arg
ENST00000659194.1:c.3991C>A
ENST00000660292.1:c.1867C>A
ENST00000360064.7:c.11766C>A	ENSP00000353174.7:p.Ser3922Arg
ENST00000366574.6:c.11814C>A	ENSP00000355533.2:p.Ser3938Arg
ENST00000609119.1:n.3009C>A
NM_001035.2:c.11814C>A	NP_001026.2:p.Ser3938Arg
XM_006711802.2:c.11868C>A	XP_006711865.1:p.Ser3956Arg
XM_006711803.2:c.11865C>A	XP_006711866.1:p.Ser3955Arg
XM_006711804.2:c.11844C>A	XP_006711867.1:p.Ser3948Arg
XM_006711805.2:c.11838C>A	XP_006711868.1:p.Ser3946Arg
XM_006711806.2:c.11832C>A	XP_006711869.1:p.Ser3944Arg
XM_006711807.2:c.11808C>A	XP_006711870.1:p.Ser3936Arg
XM_006711808.2:c.11631C>A	XP_006711871.1:p.Ser3877Arg
XM_006711810.2:c.11775C>A	XP_006711873.1:p.Ser3925Arg
XM_006711802.3:c.11868C>A	XP_006711865.1:p.Ser3956Arg
XM_006711803.3:c.11865C>A	XP_006711866.1:p.Ser3955Arg
XM_006711804.3:c.11844C>A	XP_006711867.1:p.Ser3948Arg
XM_006711805.3:c.11838C>A	XP_006711868.1:p.Ser3946Arg
XM_006711806.3:c.11832C>A	XP_006711869.1:p.Ser3944Arg
XM_006711807.3:c.11808C>A	XP_006711870.1:p.Ser3936Arg
XM_006711808.3:c.11631C>A	XP_006711871.1:p.Ser3877Arg
XM_006711810.3:c.11775C>A	XP_006711873.1:p.Ser3925Arg
XM_017002028.1:c.11847C>A	XP_016857517.1:p.Ser3949Arg
NM_001035.3:c.11814C>A MANE Select	NP_001026.2:p.Ser3938Arg