Canonical Allele Identifier: CA345383870

Gene: RYR2

Linked Data

• COSMIC: COSM3804475 ; COSM3804476
• MyVariant Identifiers: chr1:g.237580419G>C (hg19) ; chr1:g.237417119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237417119G>C , CM000663.2:g.237417119G>C	GRCh38
NC_000001.10:g.237580419G>C , CM000663.1:g.237580419G>C	GRCh37
NC_000001.9:g.235647042G>C	NCBI36
NG_008799.2:g.379718G>C
NG_008799.3:g.379936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.844G>C	ENSP00000499659.2:p.Val282Leu
ENST00000659194.3:c.844G>C	ENSP00000499653.3:p.Val282Leu
ENST00000660292.2:c.844G>C	ENSP00000499787.2:p.Val282Leu
ENST00000366574.7:c.844G>C MANE Select	ENSP00000355533.2:p.Val282Leu
ENST00000360064.7:c.796G>C	ENSP00000353174.7:p.Val266Leu
ENST00000366574.6:c.844G>C	ENSP00000355533.2:p.Val282Leu
NM_001035.2:c.844G>C	NP_001026.2:p.Val282Leu
XM_006711802.2:c.844G>C	XP_006711865.1:p.Val282Leu
XM_006711803.2:c.844G>C	XP_006711866.1:p.Val282Leu
XM_006711804.2:c.844G>C	XP_006711867.1:p.Val282Leu
XM_006711805.2:c.844G>C	XP_006711868.1:p.Val282Leu
XM_006711806.2:c.844G>C	XP_006711869.1:p.Val282Leu
XM_006711807.2:c.844G>C	XP_006711870.1:p.Val282Leu
XM_006711808.2:c.844G>C	XP_006711871.1:p.Val282Leu
XM_006711809.2:c.844G>C	XP_006711872.1:p.Val282Leu
XM_006711810.2:c.844G>C	XP_006711873.1:p.Val282Leu
XR_949152.1:n.1125G>C
XM_006711802.3:c.844G>C	XP_006711865.1:p.Val282Leu
XM_006711803.3:c.844G>C	XP_006711866.1:p.Val282Leu
XM_006711804.3:c.844G>C	XP_006711867.1:p.Val282Leu
XM_006711805.3:c.844G>C	XP_006711868.1:p.Val282Leu
XM_006711806.3:c.844G>C	XP_006711869.1:p.Val282Leu
XM_006711807.3:c.844G>C	XP_006711870.1:p.Val282Leu
XM_006711808.3:c.844G>C	XP_006711871.1:p.Val282Leu
XM_006711810.3:c.844G>C	XP_006711873.1:p.Val282Leu
XM_017002028.1:c.823G>C	XP_016857517.1:p.Val275Leu
XR_002957299.1:n.1158G>C
XR_949152.2:n.1158G>C
NM_001035.3:c.844G>C MANE Select	NP_001026.2:p.Val282Leu