Canonical Allele Identifier: CA345424425

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972297G>C (hg19) ; chr1:g.237808997G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5487G>C	ENSP00000499659.2:n.*5487G>C
ENST00000659194.3:c.14377G>C	ENSP00000499653.3:p.Gly4793Arg
ENST00000660292.2:c.14416G>C	ENSP00000499787.2:p.Gly4806Arg
ENST00000659194.2:c.6566G>C
ENST00000366574.7:c.14395G>C MANE Select	ENSP00000355533.2:p.Gly4799Arg
ENST00000360064.7:c.14344G>C	ENSP00000353174.7:p.Gly4782Arg
ENST00000366574.6:c.14395G>C	ENSP00000355533.2:p.Gly4799Arg
ENST00000608590.5:n.906G>C
NM_001035.2:c.14395G>C	NP_001026.2:p.Gly4799Arg
XM_006711802.2:c.14449G>C	XP_006711865.1:p.Gly4817Arg
XM_006711803.2:c.14446G>C	XP_006711866.1:p.Gly4816Arg
XM_006711804.2:c.14425G>C	XP_006711867.1:p.Gly4809Arg
XM_006711805.2:c.14419G>C	XP_006711868.1:p.Gly4807Arg
XM_006711806.2:c.14413G>C	XP_006711869.1:p.Gly4805Arg
XM_006711807.2:c.14389G>C	XP_006711870.1:p.Gly4797Arg
XM_006711808.2:c.14212G>C	XP_006711871.1:p.Gly4738Arg
XM_006711810.2:c.14356G>C	XP_006711873.1:p.Gly4786Arg
XM_006711802.3:c.14449G>C	XP_006711865.1:p.Gly4817Arg
XM_006711803.3:c.14446G>C	XP_006711866.1:p.Gly4816Arg
XM_006711804.3:c.14425G>C	XP_006711867.1:p.Gly4809Arg
XM_006711805.3:c.14419G>C	XP_006711868.1:p.Gly4807Arg
XM_006711806.3:c.14413G>C	XP_006711869.1:p.Gly4805Arg
XM_006711807.3:c.14389G>C	XP_006711870.1:p.Gly4797Arg
XM_006711808.3:c.14212G>C	XP_006711871.1:p.Gly4738Arg
XM_006711810.3:c.14356G>C	XP_006711873.1:p.Gly4786Arg
XM_017002028.1:c.14428G>C	XP_016857517.1:p.Gly4810Arg
NM_001035.3:c.14395G>C MANE Select	NP_001026.2:p.Gly4799Arg