Canonical Allele Identifier: CA345424413

Gene: RYR2

Linked Data

• dbSNP Id: rs1201435512
• gnomAD v2: 1-237972294-G-T
• gnomAD v4: 1-237808994-G-T
• MyVariant Identifiers: chr1:g.237972294G>T (hg19) ; chr1:g.237808994G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5484G>T	ENSP00000499659.2:n.*5484G>T
ENST00000659194.3:c.14374G>T	ENSP00000499653.3:p.Asp4792Tyr
ENST00000660292.2:c.14413G>T	ENSP00000499787.2:p.Asp4805Tyr
ENST00000659194.2:c.6563G>T
ENST00000366574.7:c.14392G>T MANE Select	ENSP00000355533.2:p.Asp4798Tyr
ENST00000360064.7:c.14341G>T	ENSP00000353174.7:p.Asp4781Tyr
ENST00000366574.6:c.14392G>T	ENSP00000355533.2:p.Asp4798Tyr
ENST00000608590.5:n.903G>T
NM_001035.2:c.14392G>T	NP_001026.2:p.Asp4798Tyr
XM_006711802.2:c.14446G>T	XP_006711865.1:p.Asp4816Tyr
XM_006711803.2:c.14443G>T	XP_006711866.1:p.Asp4815Tyr
XM_006711804.2:c.14422G>T	XP_006711867.1:p.Asp4808Tyr
XM_006711805.2:c.14416G>T	XP_006711868.1:p.Asp4806Tyr
XM_006711806.2:c.14410G>T	XP_006711869.1:p.Asp4804Tyr
XM_006711807.2:c.14386G>T	XP_006711870.1:p.Asp4796Tyr
XM_006711808.2:c.14209G>T	XP_006711871.1:p.Asp4737Tyr
XM_006711810.2:c.14353G>T	XP_006711873.1:p.Asp4785Tyr
XM_006711802.3:c.14446G>T	XP_006711865.1:p.Asp4816Tyr
XM_006711803.3:c.14443G>T	XP_006711866.1:p.Asp4815Tyr
XM_006711804.3:c.14422G>T	XP_006711867.1:p.Asp4808Tyr
XM_006711805.3:c.14416G>T	XP_006711868.1:p.Asp4806Tyr
XM_006711806.3:c.14410G>T	XP_006711869.1:p.Asp4804Tyr
XM_006711807.3:c.14386G>T	XP_006711870.1:p.Asp4796Tyr
XM_006711808.3:c.14209G>T	XP_006711871.1:p.Asp4737Tyr
XM_006711810.3:c.14353G>T	XP_006711873.1:p.Asp4785Tyr
XM_017002028.1:c.14425G>T	XP_016857517.1:p.Asp4809Tyr
NM_001035.3:c.14392G>T MANE Select	NP_001026.2:p.Asp4798Tyr