Canonical Allele Identifier: CA345413881

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947682G>T (hg19) ; chr1:g.237784382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784382G>T , CM000663.2:g.237784382G>T	GRCh38
NC_000001.10:g.237947682G>T , CM000663.1:g.237947682G>T	GRCh37
NC_000001.9:g.236014305G>T	NCBI36
NG_008799.2:g.746981G>T
NG_008799.3:g.747199G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3762G>T	ENSP00000499659.2:n.*3762G>T
ENST00000659194.3:c.12658G>T	ENSP00000499653.3:p.Glu4220Ter
ENST00000660292.2:c.12691G>T	ENSP00000499787.2:p.Glu4231Ter
ENST00000659194.2:c.4847G>T
ENST00000366574.7:c.12670G>T MANE Select	ENSP00000355533.2:p.Glu4224Ter
ENST00000659194.1:c.4847G>T
ENST00000660292.1:c.2723G>T
ENST00000360064.7:c.12622G>T	ENSP00000353174.7:p.Glu4208Ter
ENST00000366574.6:c.12670G>T	ENSP00000355533.2:p.Glu4224Ter
ENST00000609119.1:n.3865G>T
NM_001035.2:c.12670G>T	NP_001026.2:p.Glu4224Ter
XM_006711802.2:c.12724G>T	XP_006711865.1:p.Glu4242Ter
XM_006711803.2:c.12721G>T	XP_006711866.1:p.Glu4241Ter
XM_006711804.2:c.12700G>T	XP_006711867.1:p.Glu4234Ter
XM_006711805.2:c.12694G>T	XP_006711868.1:p.Glu4232Ter
XM_006711806.2:c.12688G>T	XP_006711869.1:p.Glu4230Ter
XM_006711807.2:c.12664G>T	XP_006711870.1:p.Glu4222Ter
XM_006711808.2:c.12487G>T	XP_006711871.1:p.Glu4163Ter
XM_006711810.2:c.12631G>T	XP_006711873.1:p.Glu4211Ter
XM_006711802.3:c.12724G>T	XP_006711865.1:p.Glu4242Ter
XM_006711803.3:c.12721G>T	XP_006711866.1:p.Glu4241Ter
XM_006711804.3:c.12700G>T	XP_006711867.1:p.Glu4234Ter
XM_006711805.3:c.12694G>T	XP_006711868.1:p.Glu4232Ter
XM_006711806.3:c.12688G>T	XP_006711869.1:p.Glu4230Ter
XM_006711807.3:c.12664G>T	XP_006711870.1:p.Glu4222Ter
XM_006711808.3:c.12487G>T	XP_006711871.1:p.Glu4163Ter
XM_006711810.3:c.12631G>T	XP_006711873.1:p.Glu4211Ter
XM_017002028.1:c.12703G>T	XP_016857517.1:p.Glu4235Ter
NM_001035.3:c.12670G>T MANE Select	NP_001026.2:p.Glu4224Ter