Canonical Allele Identifier: CA345413241

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947446T>C (hg19) ; chr1:g.237784146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784146T>C , CM000663.2:g.237784146T>C	GRCh38
NC_000001.10:g.237947446T>C , CM000663.1:g.237947446T>C	GRCh37
NC_000001.9:g.236014069T>C	NCBI36
NG_008799.2:g.746745T>C
NG_008799.3:g.746963T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3526T>C	ENSP00000499659.2:n.*3526T>C
ENST00000659194.3:c.12422T>C	ENSP00000499653.3:p.Ile4141Thr
ENST00000660292.2:c.12455T>C	ENSP00000499787.2:p.Ile4152Thr
ENST00000659194.2:c.4611T>C
ENST00000366574.7:c.12434T>C MANE Select	ENSP00000355533.2:p.Ile4145Thr
ENST00000659194.1:c.4611T>C
ENST00000660292.1:c.2487T>C
ENST00000360064.7:c.12386T>C	ENSP00000353174.7:p.Ile4129Thr
ENST00000366574.6:c.12434T>C	ENSP00000355533.2:p.Ile4145Thr
ENST00000609119.1:n.3629T>C
NM_001035.2:c.12434T>C	NP_001026.2:p.Ile4145Thr
XM_006711802.2:c.12488T>C	XP_006711865.1:p.Ile4163Thr
XM_006711803.2:c.12485T>C	XP_006711866.1:p.Ile4162Thr
XM_006711804.2:c.12464T>C	XP_006711867.1:p.Ile4155Thr
XM_006711805.2:c.12458T>C	XP_006711868.1:p.Ile4153Thr
XM_006711806.2:c.12452T>C	XP_006711869.1:p.Ile4151Thr
XM_006711807.2:c.12428T>C	XP_006711870.1:p.Ile4143Thr
XM_006711808.2:c.12251T>C	XP_006711871.1:p.Ile4084Thr
XM_006711810.2:c.12395T>C	XP_006711873.1:p.Ile4132Thr
XM_006711802.3:c.12488T>C	XP_006711865.1:p.Ile4163Thr
XM_006711803.3:c.12485T>C	XP_006711866.1:p.Ile4162Thr
XM_006711804.3:c.12464T>C	XP_006711867.1:p.Ile4155Thr
XM_006711805.3:c.12458T>C	XP_006711868.1:p.Ile4153Thr
XM_006711806.3:c.12452T>C	XP_006711869.1:p.Ile4151Thr
XM_006711807.3:c.12428T>C	XP_006711870.1:p.Ile4143Thr
XM_006711808.3:c.12251T>C	XP_006711871.1:p.Ile4084Thr
XM_006711810.3:c.12395T>C	XP_006711873.1:p.Ile4132Thr
XM_017002028.1:c.12467T>C	XP_016857517.1:p.Ile4156Thr
NM_001035.3:c.12434T>C MANE Select	NP_001026.2:p.Ile4145Thr