Canonical Allele Identifier: CA345403696

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2446171
• ClinVar RCV Id: RCV003156525
• MyVariant Identifiers: chr1:g.237841397C>G (hg19) ; chr1:g.237678097C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678097C>G , CM000663.2:g.237678097C>G	GRCh38
NC_000001.10:g.237841397C>G , CM000663.1:g.237841397C>G	GRCh37
NC_000001.9:g.235908020C>G	NCBI36
NG_008799.2:g.640696C>G
NG_008799.3:g.640914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2359C>G	ENSP00000499659.2:n.8831-2359C>G
ENST00000659194.3:c.8880C>G	ENSP00000499653.3:p.Ile2960Met
ENST00000660292.2:c.8880C>G	ENSP00000499787.2:p.Ile2960Met
ENST00000659194.2:c.1069C>G
ENST00000366574.7:c.8880C>G MANE Select	ENSP00000355533.2:p.Ile2960Met
ENST00000659194.1:c.1069C>G
ENST00000360064.7:c.8832C>G	ENSP00000353174.7:p.Ile2944Met
ENST00000366574.6:c.8880C>G	ENSP00000355533.2:p.Ile2960Met
ENST00000609119.1:n.84-2359C>G
NM_001035.2:c.8880C>G	NP_001026.2:p.Ile2960Met
XM_006711802.2:c.8910C>G	XP_006711865.1:p.Ile2970Met
XM_006711803.2:c.8907C>G	XP_006711866.1:p.Ile2969Met
XM_006711804.2:c.8910C>G	XP_006711867.1:p.Ile2970Met
XM_006711805.2:c.8880C>G	XP_006711868.1:p.Ile2960Met
XM_006711806.2:c.8910C>G	XP_006711869.1:p.Ile2970Met
XM_006711807.2:c.8910C>G	XP_006711870.1:p.Ile2970Met
XM_006711808.2:c.8860+3251C>G	XP_006711871.1:n.8860+3251C>G
XM_006711810.2:c.8877C>G	XP_006711873.1:p.Ile2959Met
XR_949152.1:n.9191C>G
XM_006711802.3:c.8910C>G	XP_006711865.1:p.Ile2970Met
XM_006711803.3:c.8907C>G	XP_006711866.1:p.Ile2969Met
XM_006711804.3:c.8910C>G	XP_006711867.1:p.Ile2970Met
XM_006711805.3:c.8880C>G	XP_006711868.1:p.Ile2960Met
XM_006711806.3:c.8910C>G	XP_006711869.1:p.Ile2970Met
XM_006711807.3:c.8910C>G	XP_006711870.1:p.Ile2970Met
XM_006711808.3:c.8860+3251C>G	XP_006711871.1:n.8860+3251C>G
XM_006711810.3:c.8877C>G	XP_006711873.1:p.Ile2959Met
XM_017002028.1:c.8889C>G	XP_016857517.1:p.Ile2963Met
XR_949152.2:n.9224C>G
NM_001035.3:c.8880C>G MANE Select	NP_001026.2:p.Ile2960Met