Canonical Allele Identifier: CA345383596

Gene: RYR2

Linked Data

• COSMIC: COSM5030222 ; COSM5030223
• MyVariant Identifiers: chr1:g.237580366G>T (hg19) ; chr1:g.237417066G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417066G>T , CM000663.2:g.237417066G>T	GRCh38
NC_000001.10:g.237580366G>T , CM000663.1:g.237580366G>T	GRCh37
NC_000001.9:g.235646989G>T	NCBI36
NG_008799.2:g.379665G>T
NG_008799.3:g.379883G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.791G>T	ENSP00000499659.2:p.Gly264Val
ENST00000659194.3:c.791G>T	ENSP00000499653.3:p.Gly264Val
ENST00000660292.2:c.791G>T	ENSP00000499787.2:p.Gly264Val
ENST00000366574.7:c.791G>T MANE Select	ENSP00000355533.2:p.Gly264Val
ENST00000360064.7:c.743G>T	ENSP00000353174.7:p.Gly248Val
ENST00000366574.6:c.791G>T	ENSP00000355533.2:p.Gly264Val
NM_001035.2:c.791G>T	NP_001026.2:p.Gly264Val
XM_006711802.2:c.791G>T	XP_006711865.1:p.Gly264Val
XM_006711803.2:c.791G>T	XP_006711866.1:p.Gly264Val
XM_006711804.2:c.791G>T	XP_006711867.1:p.Gly264Val
XM_006711805.2:c.791G>T	XP_006711868.1:p.Gly264Val
XM_006711806.2:c.791G>T	XP_006711869.1:p.Gly264Val
XM_006711807.2:c.791G>T	XP_006711870.1:p.Gly264Val
XM_006711808.2:c.791G>T	XP_006711871.1:p.Gly264Val
XM_006711809.2:c.791G>T	XP_006711872.1:p.Gly264Val
XM_006711810.2:c.791G>T	XP_006711873.1:p.Gly264Val
XR_949152.1:n.1072G>T
XM_006711802.3:c.791G>T	XP_006711865.1:p.Gly264Val
XM_006711803.3:c.791G>T	XP_006711866.1:p.Gly264Val
XM_006711804.3:c.791G>T	XP_006711867.1:p.Gly264Val
XM_006711805.3:c.791G>T	XP_006711868.1:p.Gly264Val
XM_006711806.3:c.791G>T	XP_006711869.1:p.Gly264Val
XM_006711807.3:c.791G>T	XP_006711870.1:p.Gly264Val
XM_006711808.3:c.791G>T	XP_006711871.1:p.Gly264Val
XM_006711810.3:c.791G>T	XP_006711873.1:p.Gly264Val
XM_017002028.1:c.770G>T	XP_016857517.1:p.Gly257Val
XR_002957299.1:n.1105G>T
XR_949152.2:n.1105G>T
NM_001035.3:c.791G>T MANE Select	NP_001026.2:p.Gly264Val