Canonical Allele Identifier: CA007658

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201340
• ClinVar RCV Id: RCV000182827
• dbSNP Id: rs794728793
• MyVariant Identifiers: chr1:g.237947623C>T (hg19) ; chr1:g.237784323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784323C>T , CM000663.2:g.237784323C>T	GRCh38
NC_000001.10:g.237947623C>T , CM000663.1:g.237947623C>T	GRCh37
NC_000001.9:g.236014246C>T	NCBI36
NG_008799.2:g.746922C>T
NG_008799.3:g.747140C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3703C>T	ENSP00000499659.2:n.*3703C>T
ENST00000659194.3:c.12599C>T	ENSP00000499653.3:p.Ala4200Val
ENST00000660292.2:c.12632C>T	ENSP00000499787.2:p.Ala4211Val
ENST00000659194.2:c.4788C>T
ENST00000366574.7:c.12611C>T MANE Select	ENSP00000355533.2:p.Ala4204Val
ENST00000659194.1:c.4788C>T
ENST00000660292.1:c.2664C>T
ENST00000360064.7:c.12563C>T	ENSP00000353174.7:p.Ala4188Val
ENST00000366574.6:c.12611C>T	ENSP00000355533.2:p.Ala4204Val
ENST00000609119.1:n.3806C>T
NM_001035.2:c.12611C>T	NP_001026.2:p.Ala4204Val
XM_006711802.2:c.12665C>T	XP_006711865.1:p.Ala4222Val
XM_006711803.2:c.12662C>T	XP_006711866.1:p.Ala4221Val
XM_006711804.2:c.12641C>T	XP_006711867.1:p.Ala4214Val
XM_006711805.2:c.12635C>T	XP_006711868.1:p.Ala4212Val
XM_006711806.2:c.12629C>T	XP_006711869.1:p.Ala4210Val
XM_006711807.2:c.12605C>T	XP_006711870.1:p.Ala4202Val
XM_006711808.2:c.12428C>T	XP_006711871.1:p.Ala4143Val
XM_006711810.2:c.12572C>T	XP_006711873.1:p.Ala4191Val
XM_006711802.3:c.12665C>T	XP_006711865.1:p.Ala4222Val
XM_006711803.3:c.12662C>T	XP_006711866.1:p.Ala4221Val
XM_006711804.3:c.12641C>T	XP_006711867.1:p.Ala4214Val
XM_006711805.3:c.12635C>T	XP_006711868.1:p.Ala4212Val
XM_006711806.3:c.12629C>T	XP_006711869.1:p.Ala4210Val
XM_006711807.3:c.12605C>T	XP_006711870.1:p.Ala4202Val
XM_006711808.3:c.12428C>T	XP_006711871.1:p.Ala4143Val
XM_006711810.3:c.12572C>T	XP_006711873.1:p.Ala4191Val
XM_017002028.1:c.12644C>T	XP_016857517.1:p.Ala4215Val
NM_001035.3:c.12611C>T MANE Select	NP_001026.2:p.Ala4204Val