Canonical Allele Identifier: CA529564354

Gene: RYR2

Linked Data

• ClinVar Variation Id: 463564
• ClinVar RCV Id: RCV002527794 ; RCV003159805
• dbSNP Id: rs1356215434
• gnomAD v2: 1-237949340-T-C
• gnomAD v4: 1-237786040-T-C
• MyVariant Identifiers: chr1:g.237949340T>C (hg19) ; chr1:g.237786040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237786040T>C , CM000663.2:g.237786040T>C	GRCh38
NC_000001.10:g.237949340T>C , CM000663.1:g.237949340T>C	GRCh37
NC_000001.9:g.236015963T>C	NCBI36
NG_008799.2:g.748639T>C
NG_008799.3:g.748857T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*4420+4T>C	ENSP00000499659.2:n.*4420+4T>C
ENST00000659194.3:c.13310+4T>C	ENSP00000499653.3:n.13310+4T>C
ENST00000660292.2:c.13349+4T>C	ENSP00000499787.2:n.13349+4T>C
ENST00000659194.2:c.5499+4T>C
ENST00000366574.7:c.13328+4T>C MANE Select	ENSP00000355533.2:n.13328+4T>C
ENST00000660292.1:c.3381+4T>C
ENST00000360064.7:c.13243+1034T>C	ENSP00000353174.7:n.13243+1034T>C
ENST00000366574.6:c.13328+4T>C	ENSP00000355533.2:n.13328+4T>C
NM_001035.2:c.13328+4T>C	NP_001026.2:n.13328+4T>C
XM_006711802.2:c.13382+4T>C	XP_006711865.1:n.13382+4T>C
XM_006711803.2:c.13379+4T>C	XP_006711866.1:n.13379+4T>C
XM_006711804.2:c.13358+4T>C	XP_006711867.1:n.13358+4T>C
XM_006711805.2:c.13352+4T>C	XP_006711868.1:n.13352+4T>C
XM_006711806.2:c.13346+4T>C	XP_006711869.1:n.13346+4T>C
XM_006711807.2:c.13322+4T>C	XP_006711870.1:n.13322+4T>C
XM_006711808.2:c.13145+4T>C	XP_006711871.1:n.13145+4T>C
XM_006711810.2:c.13289+4T>C	XP_006711873.1:n.13289+4T>C
XM_006711802.3:c.13382+4T>C	XP_006711865.1:n.13382+4T>C
XM_006711803.3:c.13379+4T>C	XP_006711866.1:n.13379+4T>C
XM_006711804.3:c.13358+4T>C	XP_006711867.1:n.13358+4T>C
XM_006711805.3:c.13352+4T>C	XP_006711868.1:n.13352+4T>C
XM_006711806.3:c.13346+4T>C	XP_006711869.1:n.13346+4T>C
XM_006711807.3:c.13322+4T>C	XP_006711870.1:n.13322+4T>C
XM_006711808.3:c.13145+4T>C	XP_006711871.1:n.13145+4T>C
XM_006711810.3:c.13289+4T>C	XP_006711873.1:n.13289+4T>C
XM_017002028.1:c.13361+4T>C	XP_016857517.1:n.13361+4T>C
NM_001035.3:c.13328+4T>C MANE Select	NP_001026.2:n.13328+4T>C