Canonical Allele Identifier: CA345424416

Gene: RYR2

Linked Data

• ClinVar Variation Id: 2568253
• ClinVar RCV Id: RCV003297614 ; RCV004009727
• gnomAD v4: 1-237808995-A-G
• MyVariant Identifiers: chr1:g.237972295A>G (hg19) ; chr1:g.237808995A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808995A>G , CM000663.2:g.237808995A>G	GRCh38
NC_000001.10:g.237972295A>G , CM000663.1:g.237972295A>G	GRCh37
NC_000001.9:g.236038918A>G	NCBI36
NG_008799.2:g.771594A>G
NG_008799.3:g.771812A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5485A>G	ENSP00000499659.2:n.*5485A>G
ENST00000659194.3:c.14375A>G	ENSP00000499653.3:p.Asp4792Gly
ENST00000660292.2:c.14414A>G	ENSP00000499787.2:p.Asp4805Gly
ENST00000659194.2:c.6564A>G
ENST00000366574.7:c.14393A>G MANE Select	ENSP00000355533.2:p.Asp4798Gly
ENST00000360064.7:c.14342A>G	ENSP00000353174.7:p.Asp4781Gly
ENST00000366574.6:c.14393A>G	ENSP00000355533.2:p.Asp4798Gly
ENST00000608590.5:n.904A>G
NM_001035.2:c.14393A>G	NP_001026.2:p.Asp4798Gly
XM_006711802.2:c.14447A>G	XP_006711865.1:p.Asp4816Gly
XM_006711803.2:c.14444A>G	XP_006711866.1:p.Asp4815Gly
XM_006711804.2:c.14423A>G	XP_006711867.1:p.Asp4808Gly
XM_006711805.2:c.14417A>G	XP_006711868.1:p.Asp4806Gly
XM_006711806.2:c.14411A>G	XP_006711869.1:p.Asp4804Gly
XM_006711807.2:c.14387A>G	XP_006711870.1:p.Asp4796Gly
XM_006711808.2:c.14210A>G	XP_006711871.1:p.Asp4737Gly
XM_006711810.2:c.14354A>G	XP_006711873.1:p.Asp4785Gly
XM_006711802.3:c.14447A>G	XP_006711865.1:p.Asp4816Gly
XM_006711803.3:c.14444A>G	XP_006711866.1:p.Asp4815Gly
XM_006711804.3:c.14423A>G	XP_006711867.1:p.Asp4808Gly
XM_006711805.3:c.14417A>G	XP_006711868.1:p.Asp4806Gly
XM_006711806.3:c.14411A>G	XP_006711869.1:p.Asp4804Gly
XM_006711807.3:c.14387A>G	XP_006711870.1:p.Asp4796Gly
XM_006711808.3:c.14210A>G	XP_006711871.1:p.Asp4737Gly
XM_006711810.3:c.14354A>G	XP_006711873.1:p.Asp4785Gly
XM_017002028.1:c.14426A>G	XP_016857517.1:p.Asp4809Gly
NM_001035.3:c.14393A>G MANE Select	NP_001026.2:p.Asp4798Gly