Canonical Allele Identifier: CA345413262

Gene: RYR2

Linked Data

• gnomAD v4: 1-237784152-G-C
• MyVariant Identifiers: chr1:g.237947452G>C (hg19) ; chr1:g.237784152G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784152G>C , CM000663.2:g.237784152G>C	GRCh38
NC_000001.10:g.237947452G>C , CM000663.1:g.237947452G>C	GRCh37
NC_000001.9:g.236014075G>C	NCBI36
NG_008799.2:g.746751G>C
NG_008799.3:g.746969G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3532G>C	ENSP00000499659.2:n.*3532G>C
ENST00000659194.3:c.12428G>C	ENSP00000499653.3:p.Arg4143Thr
ENST00000660292.2:c.12461G>C	ENSP00000499787.2:p.Arg4154Thr
ENST00000659194.2:c.4617G>C
ENST00000366574.7:c.12440G>C MANE Select	ENSP00000355533.2:p.Arg4147Thr
ENST00000659194.1:c.4617G>C
ENST00000660292.1:c.2493G>C
ENST00000360064.7:c.12392G>C	ENSP00000353174.7:p.Arg4131Thr
ENST00000366574.6:c.12440G>C	ENSP00000355533.2:p.Arg4147Thr
ENST00000609119.1:n.3635G>C
NM_001035.2:c.12440G>C	NP_001026.2:p.Arg4147Thr
XM_006711802.2:c.12494G>C	XP_006711865.1:p.Arg4165Thr
XM_006711803.2:c.12491G>C	XP_006711866.1:p.Arg4164Thr
XM_006711804.2:c.12470G>C	XP_006711867.1:p.Arg4157Thr
XM_006711805.2:c.12464G>C	XP_006711868.1:p.Arg4155Thr
XM_006711806.2:c.12458G>C	XP_006711869.1:p.Arg4153Thr
XM_006711807.2:c.12434G>C	XP_006711870.1:p.Arg4145Thr
XM_006711808.2:c.12257G>C	XP_006711871.1:p.Arg4086Thr
XM_006711810.2:c.12401G>C	XP_006711873.1:p.Arg4134Thr
XM_006711802.3:c.12494G>C	XP_006711865.1:p.Arg4165Thr
XM_006711803.3:c.12491G>C	XP_006711866.1:p.Arg4164Thr
XM_006711804.3:c.12470G>C	XP_006711867.1:p.Arg4157Thr
XM_006711805.3:c.12464G>C	XP_006711868.1:p.Arg4155Thr
XM_006711806.3:c.12458G>C	XP_006711869.1:p.Arg4153Thr
XM_006711807.3:c.12434G>C	XP_006711870.1:p.Arg4145Thr
XM_006711808.3:c.12257G>C	XP_006711871.1:p.Arg4086Thr
XM_006711810.3:c.12401G>C	XP_006711873.1:p.Arg4134Thr
XM_017002028.1:c.12473G>C	XP_016857517.1:p.Arg4158Thr
NM_001035.3:c.12440G>C MANE Select	NP_001026.2:p.Arg4147Thr