Canonical Allele Identifier: CA085203

Gene: RYR2

Linked Data

• ClinVar Variation Id: 227907
• ClinVar RCV Id: RCV000217268
• dbSNP Id: rs372943408
• ExAC: 1:237947621 G / T
• gnomAD v2: 1-237947621-G-T
• gnomAD v3: 1-237784321-G-T
• gnomAD v4: 1-237784321-G-T
• COSMIC: COSM4030038 ; COSM4030039
• MyVariant Identifiers: chr1:g.237947621G>T (hg19) ; chr1:g.237784321G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784321G>T , CM000663.2:g.237784321G>T	GRCh38
NC_000001.10:g.237947621G>T , CM000663.1:g.237947621G>T	GRCh37
NC_000001.9:g.236014244G>T	NCBI36
NG_008799.2:g.746920G>T
NG_008799.3:g.747138G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3701G>T	ENSP00000499659.2:n.*3701G>T
ENST00000659194.3:c.12597G>T	ENSP00000499653.3:p.Ala4199=
ENST00000660292.2:c.12630G>T	ENSP00000499787.2:p.Ala4210=
ENST00000659194.2:c.4786G>T
ENST00000366574.7:c.12609G>T MANE Select	ENSP00000355533.2:p.Ala4203=
ENST00000659194.1:c.4786G>T
ENST00000660292.1:c.2662G>T
ENST00000360064.7:c.12561G>T	ENSP00000353174.7:p.Ala4187=
ENST00000366574.6:c.12609G>T	ENSP00000355533.2:p.Ala4203=
ENST00000609119.1:n.3804G>T
NM_001035.2:c.12609G>T	NP_001026.2:p.Ala4203=
XM_006711802.2:c.12663G>T	XP_006711865.1:p.Ala4221=
XM_006711803.2:c.12660G>T	XP_006711866.1:p.Ala4220=
XM_006711804.2:c.12639G>T	XP_006711867.1:p.Ala4213=
XM_006711805.2:c.12633G>T	XP_006711868.1:p.Ala4211=
XM_006711806.2:c.12627G>T	XP_006711869.1:p.Ala4209=
XM_006711807.2:c.12603G>T	XP_006711870.1:p.Ala4201=
XM_006711808.2:c.12426G>T	XP_006711871.1:p.Ala4142=
XM_006711810.2:c.12570G>T	XP_006711873.1:p.Ala4190=
XM_006711802.3:c.12663G>T	XP_006711865.1:p.Ala4221=
XM_006711803.3:c.12660G>T	XP_006711866.1:p.Ala4220=
XM_006711804.3:c.12639G>T	XP_006711867.1:p.Ala4213=
XM_006711805.3:c.12633G>T	XP_006711868.1:p.Ala4211=
XM_006711806.3:c.12627G>T	XP_006711869.1:p.Ala4209=
XM_006711807.3:c.12603G>T	XP_006711870.1:p.Ala4201=
XM_006711808.3:c.12426G>T	XP_006711871.1:p.Ala4142=
XM_006711810.3:c.12570G>T	XP_006711873.1:p.Ala4190=
XM_017002028.1:c.12642G>T	XP_016857517.1:p.Ala4214=
NM_001035.3:c.12609G>T MANE Select	NP_001026.2:p.Ala4203=