Canonical Allele Identifier: CA010312

Gene: RYR2

Linked Data

• ClinVar Variation Id: 43817
• ClinVar RCV Id: RCV000036781 ; RCV000300385 ; RCV000357582 ; RCV000775984
• dbSNP Id: rs10754602
• ExAC: 1:237551376 T / A
• gnomAD v2: 1-237551376-T-A
• gnomAD v3: 1-237388076-T-A
• gnomAD v4: 1-237388076-T-A
• MyVariant Identifiers: chr1:g.237551376T>A (hg19) ; chr1:g.237388076T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237388076T>A , CM000663.2:g.237388076T>A	GRCh38
NC_000001.10:g.237551376T>A , CM000663.1:g.237551376T>A	GRCh37
NC_000001.9:g.235617999T>A	NCBI36
NG_008799.2:g.350675T>A
NG_008799.3:g.350893T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.677-11T>A	ENSP00000499659.2:n.677-11T>A
ENST00000659194.3:c.677-11T>A	ENSP00000499653.3:n.677-11T>A
ENST00000660292.2:c.677-11T>A	ENSP00000499787.2:n.677-11T>A
ENST00000366574.7:c.677-11T>A MANE Select	ENSP00000355533.2:n.677-11T>A
ENST00000360064.7:c.629-11T>A	ENSP00000353174.7:n.629-11T>A
ENST00000366574.6:c.677-11T>A	ENSP00000355533.2:n.677-11T>A
NM_001035.2:c.677-11T>A	NP_001026.2:n.677-11T>A
XM_006711802.2:c.677-11T>A	XP_006711865.1:n.677-11T>A
XM_006711803.2:c.677-11T>A	XP_006711866.1:n.677-11T>A
XM_006711804.2:c.677-11T>A	XP_006711867.1:n.677-11T>A
XM_006711805.2:c.677-11T>A	XP_006711868.1:n.677-11T>A
XM_006711806.2:c.677-11T>A	XP_006711869.1:n.677-11T>A
XM_006711807.2:c.677-11T>A	XP_006711870.1:n.677-11T>A
XM_006711808.2:c.677-11T>A	XP_006711871.1:n.677-11T>A
XM_006711809.2:c.677-11T>A	XP_006711872.1:n.677-11T>A
XM_006711810.2:c.677-11T>A	XP_006711873.1:n.677-11T>A
XR_949152.1:n.958-11T>A
XM_006711802.3:c.677-11T>A	XP_006711865.1:n.677-11T>A
XM_006711803.3:c.677-11T>A	XP_006711866.1:n.677-11T>A
XM_006711804.3:c.677-11T>A	XP_006711867.1:n.677-11T>A
XM_006711805.3:c.677-11T>A	XP_006711868.1:n.677-11T>A
XM_006711806.3:c.677-11T>A	XP_006711869.1:n.677-11T>A
XM_006711807.3:c.677-11T>A	XP_006711870.1:n.677-11T>A
XM_006711808.3:c.677-11T>A	XP_006711871.1:n.677-11T>A
XM_006711810.3:c.677-11T>A	XP_006711873.1:n.677-11T>A
XM_017002028.1:c.656-11T>A	XP_016857517.1:n.656-11T>A
XR_002957299.1:n.991-11T>A
XR_949152.2:n.991-11T>A
NM_001035.3:c.677-11T>A MANE Select	NP_001026.2:n.677-11T>A