Canonical Allele Identifier: CA085176

Gene: RYR2

Linked Data

• ClinVar Variation Id: 920586
• ClinVar RCV Id: RCV001179435
• dbSNP Id: rs775417996
• ExAC: 1:237947385 G / A
• gnomAD v2: 1-237947385-G-A
• gnomAD v4: 1-237784085-G-A
• COSMIC: COSM121009 ; COSM3705689
• MyVariant Identifiers: chr1:g.237947385G>A (hg19) ; chr1:g.237784085G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784085G>A , CM000663.2:g.237784085G>A	GRCh38
NC_000001.10:g.237947385G>A , CM000663.1:g.237947385G>A	GRCh37
NC_000001.9:g.236014008G>A	NCBI36
NG_008799.2:g.746684G>A
NG_008799.3:g.746902G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3465G>A	ENSP00000499659.2:n.*3465G>A
ENST00000659194.3:c.12361G>A	ENSP00000499653.3:p.Val4121Ile
ENST00000660292.2:c.12394G>A	ENSP00000499787.2:p.Val4132Ile
ENST00000659194.2:c.4550G>A
ENST00000366574.7:c.12373G>A MANE Select	ENSP00000355533.2:p.Val4125Ile
ENST00000659194.1:c.4550G>A
ENST00000660292.1:c.2426G>A
ENST00000360064.7:c.12325G>A	ENSP00000353174.7:p.Val4109Ile
ENST00000366574.6:c.12373G>A	ENSP00000355533.2:p.Val4125Ile
ENST00000609119.1:n.3568G>A
NM_001035.2:c.12373G>A	NP_001026.2:p.Val4125Ile
XM_006711802.2:c.12427G>A	XP_006711865.1:p.Val4143Ile
XM_006711803.2:c.12424G>A	XP_006711866.1:p.Val4142Ile
XM_006711804.2:c.12403G>A	XP_006711867.1:p.Val4135Ile
XM_006711805.2:c.12397G>A	XP_006711868.1:p.Val4133Ile
XM_006711806.2:c.12391G>A	XP_006711869.1:p.Val4131Ile
XM_006711807.2:c.12367G>A	XP_006711870.1:p.Val4123Ile
XM_006711808.2:c.12190G>A	XP_006711871.1:p.Val4064Ile
XM_006711810.2:c.12334G>A	XP_006711873.1:p.Val4112Ile
XM_006711802.3:c.12427G>A	XP_006711865.1:p.Val4143Ile
XM_006711803.3:c.12424G>A	XP_006711866.1:p.Val4142Ile
XM_006711804.3:c.12403G>A	XP_006711867.1:p.Val4135Ile
XM_006711805.3:c.12397G>A	XP_006711868.1:p.Val4133Ile
XM_006711806.3:c.12391G>A	XP_006711869.1:p.Val4131Ile
XM_006711807.3:c.12367G>A	XP_006711870.1:p.Val4123Ile
XM_006711808.3:c.12190G>A	XP_006711871.1:p.Val4064Ile
XM_006711810.3:c.12334G>A	XP_006711873.1:p.Val4112Ile
XM_017002028.1:c.12406G>A	XP_016857517.1:p.Val4136Ile
NM_001035.3:c.12373G>A MANE Select	NP_001026.2:p.Val4125Ile