Canonical Allele Identifier: CA345411509

Gene: RYR2

Linked Data

• ClinVar Variation Id: 965242
• ClinVar RCV Id: RCV002563950
• dbSNP Id: rs1443634453
• MyVariant Identifiers: chr1:g.237791359A>C (hg19) ; chr1:g.237628059A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237628059A>C , CM000663.2:g.237628059A>C	GRCh38
NC_000001.10:g.237791359A>C , CM000663.1:g.237791359A>C	GRCh37
NC_000001.9:g.235857982A>C	NCBI36
NG_008799.2:g.590658A>C
NG_008799.3:g.590876A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6419A>C	ENSP00000499659.2:p.Lys2140Thr
ENST00000659194.3:c.6419A>C	ENSP00000499653.3:p.Lys2140Thr
ENST00000660292.2:c.6419A>C	ENSP00000499787.2:p.Lys2140Thr
ENST00000366574.7:c.6419A>C MANE Select	ENSP00000355533.2:p.Lys2140Thr
ENST00000360064.7:c.6371A>C	ENSP00000353174.7:p.Lys2124Thr
ENST00000366574.6:c.6419A>C	ENSP00000355533.2:p.Lys2140Thr
NM_001035.2:c.6419A>C	NP_001026.2:p.Lys2140Thr
XM_006711802.2:c.6449A>C	XP_006711865.1:p.Lys2150Thr
XM_006711803.2:c.6446A>C	XP_006711866.1:p.Lys2149Thr
XM_006711804.2:c.6449A>C	XP_006711867.1:p.Lys2150Thr
XM_006711805.2:c.6419A>C	XP_006711868.1:p.Lys2140Thr
XM_006711806.2:c.6449A>C	XP_006711869.1:p.Lys2150Thr
XM_006711807.2:c.6449A>C	XP_006711870.1:p.Lys2150Thr
XM_006711808.2:c.6449A>C	XP_006711871.1:p.Lys2150Thr
XM_006711809.2:c.6449A>C	XP_006711872.1:p.Lys2150Thr
XM_006711810.2:c.6416A>C	XP_006711873.1:p.Lys2139Thr
XR_949152.1:n.6730A>C
XM_006711802.3:c.6449A>C	XP_006711865.1:p.Lys2150Thr
XM_006711803.3:c.6446A>C	XP_006711866.1:p.Lys2149Thr
XM_006711804.3:c.6449A>C	XP_006711867.1:p.Lys2150Thr
XM_006711805.3:c.6419A>C	XP_006711868.1:p.Lys2140Thr
XM_006711806.3:c.6449A>C	XP_006711869.1:p.Lys2150Thr
XM_006711807.3:c.6449A>C	XP_006711870.1:p.Lys2150Thr
XM_006711808.3:c.6449A>C	XP_006711871.1:p.Lys2150Thr
XM_006711810.3:c.6416A>C	XP_006711873.1:p.Lys2139Thr
XM_017002028.1:c.6428A>C	XP_016857517.1:p.Lys2143Thr
XR_002957299.1:n.6763A>C
XR_949152.2:n.6763A>C
NM_001035.3:c.6419A>C MANE Select	NP_001026.2:p.Lys2140Thr