Canonical Allele Identifier: CA345419599

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1404674
• ClinVar RCV Id: RCV002507010 ; RCV002555374
• dbSNP Id: rs886039213
• MyVariant Identifiers: chr1:g.237961364G>C (hg19) ; chr1:g.237798064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237798064G>C , CM000663.2:g.237798064G>C	GRCh38
NC_000001.10:g.237961364G>C , CM000663.1:g.237961364G>C	GRCh37
NC_000001.9:g.236027987G>C	NCBI36
NG_008799.2:g.760663G>C
NG_008799.3:g.760881G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5076G>C	ENSP00000499659.2:n.*5076G>C
ENST00000659194.3:c.13966G>C	ENSP00000499653.3:p.Gly4656Arg
ENST00000660292.2:c.14005G>C	ENSP00000499787.2:p.Gly4669Arg
ENST00000659194.2:c.6155G>C
ENST00000366574.7:c.13984G>C MANE Select	ENSP00000355533.2:p.Gly4662Arg
ENST00000360064.7:c.13933G>C	ENSP00000353174.7:p.Gly4645Arg
ENST00000366574.6:c.13984G>C	ENSP00000355533.2:p.Gly4662Arg
ENST00000608590.5:n.495G>C
NM_001035.2:c.13984G>C	NP_001026.2:p.Gly4662Arg
XM_006711802.2:c.14038G>C	XP_006711865.1:p.Gly4680Arg
XM_006711803.2:c.14035G>C	XP_006711866.1:p.Gly4679Arg
XM_006711804.2:c.14014G>C	XP_006711867.1:p.Gly4672Arg
XM_006711805.2:c.14008G>C	XP_006711868.1:p.Gly4670Arg
XM_006711806.2:c.14002G>C	XP_006711869.1:p.Gly4668Arg
XM_006711807.2:c.13978G>C	XP_006711870.1:p.Gly4660Arg
XM_006711808.2:c.13801G>C	XP_006711871.1:p.Gly4601Arg
XM_006711810.2:c.13945G>C	XP_006711873.1:p.Gly4649Arg
XM_006711802.3:c.14038G>C	XP_006711865.1:p.Gly4680Arg
XM_006711803.3:c.14035G>C	XP_006711866.1:p.Gly4679Arg
XM_006711804.3:c.14014G>C	XP_006711867.1:p.Gly4672Arg
XM_006711805.3:c.14008G>C	XP_006711868.1:p.Gly4670Arg
XM_006711806.3:c.14002G>C	XP_006711869.1:p.Gly4668Arg
XM_006711807.3:c.13978G>C	XP_006711870.1:p.Gly4660Arg
XM_006711808.3:c.13801G>C	XP_006711871.1:p.Gly4601Arg
XM_006711810.3:c.13945G>C	XP_006711873.1:p.Gly4649Arg
XM_017002028.1:c.14017G>C	XP_016857517.1:p.Gly4673Arg
NM_001035.3:c.13984G>C MANE Select	NP_001026.2:p.Gly4662Arg