Canonical Allele Identifier: CA345403676

Gene: RYR2

Linked Data

• dbSNP Id: rs749001935
• gnomAD v2: 1-237841391-A-C
• gnomAD v4: 1-237678091-A-C
• MyVariant Identifiers: chr1:g.237841391A>C (hg19) ; chr1:g.237678091A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678091A>C , CM000663.2:g.237678091A>C	GRCh38
NC_000001.10:g.237841391A>C , CM000663.1:g.237841391A>C	GRCh37
NC_000001.9:g.235908014A>C	NCBI36
NG_008799.2:g.640690A>C
NG_008799.3:g.640908A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2365A>C	ENSP00000499659.2:n.8831-2365A>C
ENST00000659194.3:c.8874A>C	ENSP00000499653.3:p.Gln2958His
ENST00000660292.2:c.8874A>C	ENSP00000499787.2:p.Gln2958His
ENST00000659194.2:c.1063A>C
ENST00000366574.7:c.8874A>C MANE Select	ENSP00000355533.2:p.Gln2958His
ENST00000659194.1:c.1063A>C
ENST00000360064.7:c.8826A>C	ENSP00000353174.7:p.Gln2942His
ENST00000366574.6:c.8874A>C	ENSP00000355533.2:p.Gln2958His
ENST00000609119.1:n.84-2365A>C
NM_001035.2:c.8874A>C	NP_001026.2:p.Gln2958His
XM_006711802.2:c.8904A>C	XP_006711865.1:p.Gln2968His
XM_006711803.2:c.8901A>C	XP_006711866.1:p.Gln2967His
XM_006711804.2:c.8904A>C	XP_006711867.1:p.Gln2968His
XM_006711805.2:c.8874A>C	XP_006711868.1:p.Gln2958His
XM_006711806.2:c.8904A>C	XP_006711869.1:p.Gln2968His
XM_006711807.2:c.8904A>C	XP_006711870.1:p.Gln2968His
XM_006711808.2:c.8860+3245A>C	XP_006711871.1:n.8860+3245A>C
XM_006711810.2:c.8871A>C	XP_006711873.1:p.Gln2957His
XR_949152.1:n.9185A>C
XM_006711802.3:c.8904A>C	XP_006711865.1:p.Gln2968His
XM_006711803.3:c.8901A>C	XP_006711866.1:p.Gln2967His
XM_006711804.3:c.8904A>C	XP_006711867.1:p.Gln2968His
XM_006711805.3:c.8874A>C	XP_006711868.1:p.Gln2958His
XM_006711806.3:c.8904A>C	XP_006711869.1:p.Gln2968His
XM_006711807.3:c.8904A>C	XP_006711870.1:p.Gln2968His
XM_006711808.3:c.8860+3245A>C	XP_006711871.1:n.8860+3245A>C
XM_006711810.3:c.8871A>C	XP_006711873.1:p.Gln2957His
XM_017002028.1:c.8883A>C	XP_016857517.1:p.Gln2961His
XR_949152.2:n.9218A>C
NM_001035.3:c.8874A>C MANE Select	NP_001026.2:p.Gln2958His