Canonical Allele Identifier: CA345413450

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2900910
• ClinVar RCV Id: RCV003639059
• MyVariant Identifiers: chr1:g.237947499C>G (hg19) ; chr1:g.237784199C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784199C>G , CM000663.2:g.237784199C>G	GRCh38
NC_000001.10:g.237947499C>G , CM000663.1:g.237947499C>G	GRCh37
NC_000001.9:g.236014122C>G	NCBI36
NG_008799.2:g.746798C>G
NG_008799.3:g.747016C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3579C>G	ENSP00000499659.2:n.*3579C>G
ENST00000659194.3:c.12475C>G	ENSP00000499653.3:p.Pro4159Ala
ENST00000660292.2:c.12508C>G	ENSP00000499787.2:p.Pro4170Ala
ENST00000659194.2:c.4664C>G
ENST00000366574.7:c.12487C>G MANE Select	ENSP00000355533.2:p.Pro4163Ala
ENST00000659194.1:c.4664C>G
ENST00000660292.1:c.2540C>G
ENST00000360064.7:c.12439C>G	ENSP00000353174.7:p.Pro4147Ala
ENST00000366574.6:c.12487C>G	ENSP00000355533.2:p.Pro4163Ala
ENST00000609119.1:n.3682C>G
NM_001035.2:c.12487C>G	NP_001026.2:p.Pro4163Ala
XM_006711802.2:c.12541C>G	XP_006711865.1:p.Pro4181Ala
XM_006711803.2:c.12538C>G	XP_006711866.1:p.Pro4180Ala
XM_006711804.2:c.12517C>G	XP_006711867.1:p.Pro4173Ala
XM_006711805.2:c.12511C>G	XP_006711868.1:p.Pro4171Ala
XM_006711806.2:c.12505C>G	XP_006711869.1:p.Pro4169Ala
XM_006711807.2:c.12481C>G	XP_006711870.1:p.Pro4161Ala
XM_006711808.2:c.12304C>G	XP_006711871.1:p.Pro4102Ala
XM_006711810.2:c.12448C>G	XP_006711873.1:p.Pro4150Ala
XM_006711802.3:c.12541C>G	XP_006711865.1:p.Pro4181Ala
XM_006711803.3:c.12538C>G	XP_006711866.1:p.Pro4180Ala
XM_006711804.3:c.12517C>G	XP_006711867.1:p.Pro4173Ala
XM_006711805.3:c.12511C>G	XP_006711868.1:p.Pro4171Ala
XM_006711806.3:c.12505C>G	XP_006711869.1:p.Pro4169Ala
XM_006711807.3:c.12481C>G	XP_006711870.1:p.Pro4161Ala
XM_006711808.3:c.12304C>G	XP_006711871.1:p.Pro4102Ala
XM_006711810.3:c.12448C>G	XP_006711873.1:p.Pro4150Ala
XM_017002028.1:c.12520C>G	XP_016857517.1:p.Pro4174Ala
NM_001035.3:c.12487C>G MANE Select	NP_001026.2:p.Pro4163Ala