Canonical Allele Identifier: CA345424370

Gene: RYR2

Linked Data

• ClinVar Variation Id: 560659
• ClinVar RCV Id: RCV000678835 ; RCV003638702
• dbSNP Id: rs1558462911
• COSMIC: COSM2049059 ; COSM4234709
• MyVariant Identifiers: chr1:g.237972285A>G (hg19) ; chr1:g.237808985A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808985A>G , CM000663.2:g.237808985A>G	GRCh38
NC_000001.10:g.237972285A>G , CM000663.1:g.237972285A>G	GRCh37
NC_000001.9:g.236038908A>G	NCBI36
NG_008799.2:g.771584A>G
NG_008799.3:g.771802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5475A>G	ENSP00000499659.2:n.*5475A>G
ENST00000659194.3:c.14365A>G	ENSP00000499653.3:p.Lys4789Glu
ENST00000660292.2:c.14404A>G	ENSP00000499787.2:p.Lys4802Glu
ENST00000659194.2:c.6554A>G
ENST00000366574.7:c.14383A>G MANE Select	ENSP00000355533.2:p.Lys4795Glu
ENST00000360064.7:c.14332A>G	ENSP00000353174.7:p.Lys4778Glu
ENST00000366574.6:c.14383A>G	ENSP00000355533.2:p.Lys4795Glu
ENST00000608590.5:n.894A>G
NM_001035.2:c.14383A>G	NP_001026.2:p.Lys4795Glu
XM_006711802.2:c.14437A>G	XP_006711865.1:p.Lys4813Glu
XM_006711803.2:c.14434A>G	XP_006711866.1:p.Lys4812Glu
XM_006711804.2:c.14413A>G	XP_006711867.1:p.Lys4805Glu
XM_006711805.2:c.14407A>G	XP_006711868.1:p.Lys4803Glu
XM_006711806.2:c.14401A>G	XP_006711869.1:p.Lys4801Glu
XM_006711807.2:c.14377A>G	XP_006711870.1:p.Lys4793Glu
XM_006711808.2:c.14200A>G	XP_006711871.1:p.Lys4734Glu
XM_006711810.2:c.14344A>G	XP_006711873.1:p.Lys4782Glu
XM_006711802.3:c.14437A>G	XP_006711865.1:p.Lys4813Glu
XM_006711803.3:c.14434A>G	XP_006711866.1:p.Lys4812Glu
XM_006711804.3:c.14413A>G	XP_006711867.1:p.Lys4805Glu
XM_006711805.3:c.14407A>G	XP_006711868.1:p.Lys4803Glu
XM_006711806.3:c.14401A>G	XP_006711869.1:p.Lys4801Glu
XM_006711807.3:c.14377A>G	XP_006711870.1:p.Lys4793Glu
XM_006711808.3:c.14200A>G	XP_006711871.1:p.Lys4734Glu
XM_006711810.3:c.14344A>G	XP_006711873.1:p.Lys4782Glu
XM_017002028.1:c.14416A>G	XP_016857517.1:p.Lys4806Glu
NM_001035.3:c.14383A>G MANE Select	NP_001026.2:p.Lys4795Glu