Canonical Allele Identifier: CA345424423

Gene: RYR2

Linked Data

• gnomAD v4: 1-237808997-G-A
• COSMIC: COSM3485884 ; COSM3485885
• MyVariant Identifiers: chr1:g.237972297G>A (hg19) ; chr1:g.237808997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808997G>A , CM000663.2:g.237808997G>A	GRCh38
NC_000001.10:g.237972297G>A , CM000663.1:g.237972297G>A	GRCh37
NC_000001.9:g.236038920G>A	NCBI36
NG_008799.2:g.771596G>A
NG_008799.3:g.771814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5487G>A	ENSP00000499659.2:n.*5487G>A
ENST00000659194.3:c.14377G>A	ENSP00000499653.3:p.Gly4793Ser
ENST00000660292.2:c.14416G>A	ENSP00000499787.2:p.Gly4806Ser
ENST00000659194.2:c.6566G>A
ENST00000366574.7:c.14395G>A MANE Select	ENSP00000355533.2:p.Gly4799Ser
ENST00000360064.7:c.14344G>A	ENSP00000353174.7:p.Gly4782Ser
ENST00000366574.6:c.14395G>A	ENSP00000355533.2:p.Gly4799Ser
ENST00000608590.5:n.906G>A
NM_001035.2:c.14395G>A	NP_001026.2:p.Gly4799Ser
XM_006711802.2:c.14449G>A	XP_006711865.1:p.Gly4817Ser
XM_006711803.2:c.14446G>A	XP_006711866.1:p.Gly4816Ser
XM_006711804.2:c.14425G>A	XP_006711867.1:p.Gly4809Ser
XM_006711805.2:c.14419G>A	XP_006711868.1:p.Gly4807Ser
XM_006711806.2:c.14413G>A	XP_006711869.1:p.Gly4805Ser
XM_006711807.2:c.14389G>A	XP_006711870.1:p.Gly4797Ser
XM_006711808.2:c.14212G>A	XP_006711871.1:p.Gly4738Ser
XM_006711810.2:c.14356G>A	XP_006711873.1:p.Gly4786Ser
XM_006711802.3:c.14449G>A	XP_006711865.1:p.Gly4817Ser
XM_006711803.3:c.14446G>A	XP_006711866.1:p.Gly4816Ser
XM_006711804.3:c.14425G>A	XP_006711867.1:p.Gly4809Ser
XM_006711805.3:c.14419G>A	XP_006711868.1:p.Gly4807Ser
XM_006711806.3:c.14413G>A	XP_006711869.1:p.Gly4805Ser
XM_006711807.3:c.14389G>A	XP_006711870.1:p.Gly4797Ser
XM_006711808.3:c.14212G>A	XP_006711871.1:p.Gly4738Ser
XM_006711810.3:c.14356G>A	XP_006711873.1:p.Gly4786Ser
XM_017002028.1:c.14428G>A	XP_016857517.1:p.Gly4810Ser
NM_001035.3:c.14395G>A MANE Select	NP_001026.2:p.Gly4799Ser