Canonical Allele Identifier: CA345413674

Gene: RYR2

Linked Data

• COSMIC: COSM6125040 ; COSM6125041
• MyVariant Identifiers: chr1:g.237947592G>T (hg19) ; chr1:g.237784292G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784292G>T , CM000663.2:g.237784292G>T	GRCh38
NC_000001.10:g.237947592G>T , CM000663.1:g.237947592G>T	GRCh37
NC_000001.9:g.236014215G>T	NCBI36
NG_008799.2:g.746891G>T
NG_008799.3:g.747109G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3672G>T	ENSP00000499659.2:n.*3672G>T
ENST00000659194.3:c.12568G>T	ENSP00000499653.3:p.Glu4190Ter
ENST00000660292.2:c.12601G>T	ENSP00000499787.2:p.Glu4201Ter
ENST00000659194.2:c.4757G>T
ENST00000366574.7:c.12580G>T MANE Select	ENSP00000355533.2:p.Glu4194Ter
ENST00000659194.1:c.4757G>T
ENST00000660292.1:c.2633G>T
ENST00000360064.7:c.12532G>T	ENSP00000353174.7:p.Glu4178Ter
ENST00000366574.6:c.12580G>T	ENSP00000355533.2:p.Glu4194Ter
ENST00000609119.1:n.3775G>T
NM_001035.2:c.12580G>T	NP_001026.2:p.Glu4194Ter
XM_006711802.2:c.12634G>T	XP_006711865.1:p.Glu4212Ter
XM_006711803.2:c.12631G>T	XP_006711866.1:p.Glu4211Ter
XM_006711804.2:c.12610G>T	XP_006711867.1:p.Glu4204Ter
XM_006711805.2:c.12604G>T	XP_006711868.1:p.Glu4202Ter
XM_006711806.2:c.12598G>T	XP_006711869.1:p.Glu4200Ter
XM_006711807.2:c.12574G>T	XP_006711870.1:p.Glu4192Ter
XM_006711808.2:c.12397G>T	XP_006711871.1:p.Glu4133Ter
XM_006711810.2:c.12541G>T	XP_006711873.1:p.Glu4181Ter
XM_006711802.3:c.12634G>T	XP_006711865.1:p.Glu4212Ter
XM_006711803.3:c.12631G>T	XP_006711866.1:p.Glu4211Ter
XM_006711804.3:c.12610G>T	XP_006711867.1:p.Glu4204Ter
XM_006711805.3:c.12604G>T	XP_006711868.1:p.Glu4202Ter
XM_006711806.3:c.12598G>T	XP_006711869.1:p.Glu4200Ter
XM_006711807.3:c.12574G>T	XP_006711870.1:p.Glu4192Ter
XM_006711808.3:c.12397G>T	XP_006711871.1:p.Glu4133Ter
XM_006711810.3:c.12541G>T	XP_006711873.1:p.Glu4181Ter
XM_017002028.1:c.12613G>T	XP_016857517.1:p.Glu4205Ter
NM_001035.3:c.12580G>T MANE Select	NP_001026.2:p.Glu4194Ter