Canonical Allele Identifier: CA345424409

Gene: RYR2

Linked Data

• ClinVar Variation Id: 3070525
• ClinVar RCV Id: RCV004013035
• dbSNP Id: rs1201435512
• gnomAD v2: 1-237972294-G-A
• gnomAD v4: 1-237808994-G-A
• MyVariant Identifiers: chr1:g.237972294G>A (hg19) ; chr1:g.237808994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808994G>A , CM000663.2:g.237808994G>A	GRCh38
NC_000001.10:g.237972294G>A , CM000663.1:g.237972294G>A	GRCh37
NC_000001.9:g.236038917G>A	NCBI36
NG_008799.2:g.771593G>A
NG_008799.3:g.771811G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5484G>A	ENSP00000499659.2:n.*5484G>A
ENST00000659194.3:c.14374G>A	ENSP00000499653.3:p.Asp4792Asn
ENST00000660292.2:c.14413G>A	ENSP00000499787.2:p.Asp4805Asn
ENST00000659194.2:c.6563G>A
ENST00000366574.7:c.14392G>A MANE Select	ENSP00000355533.2:p.Asp4798Asn
ENST00000360064.7:c.14341G>A	ENSP00000353174.7:p.Asp4781Asn
ENST00000366574.6:c.14392G>A	ENSP00000355533.2:p.Asp4798Asn
ENST00000608590.5:n.903G>A
NM_001035.2:c.14392G>A	NP_001026.2:p.Asp4798Asn
XM_006711802.2:c.14446G>A	XP_006711865.1:p.Asp4816Asn
XM_006711803.2:c.14443G>A	XP_006711866.1:p.Asp4815Asn
XM_006711804.2:c.14422G>A	XP_006711867.1:p.Asp4808Asn
XM_006711805.2:c.14416G>A	XP_006711868.1:p.Asp4806Asn
XM_006711806.2:c.14410G>A	XP_006711869.1:p.Asp4804Asn
XM_006711807.2:c.14386G>A	XP_006711870.1:p.Asp4796Asn
XM_006711808.2:c.14209G>A	XP_006711871.1:p.Asp4737Asn
XM_006711810.2:c.14353G>A	XP_006711873.1:p.Asp4785Asn
XM_006711802.3:c.14446G>A	XP_006711865.1:p.Asp4816Asn
XM_006711803.3:c.14443G>A	XP_006711866.1:p.Asp4815Asn
XM_006711804.3:c.14422G>A	XP_006711867.1:p.Asp4808Asn
XM_006711805.3:c.14416G>A	XP_006711868.1:p.Asp4806Asn
XM_006711806.3:c.14410G>A	XP_006711869.1:p.Asp4804Asn
XM_006711807.3:c.14386G>A	XP_006711870.1:p.Asp4796Asn
XM_006711808.3:c.14209G>A	XP_006711871.1:p.Asp4737Asn
XM_006711810.3:c.14353G>A	XP_006711873.1:p.Asp4785Asn
XM_017002028.1:c.14425G>A	XP_016857517.1:p.Asp4809Asn
NM_001035.3:c.14392G>A MANE Select	NP_001026.2:p.Asp4798Asn