Canonical Allele Identifier: CA007648

Gene: RYR2

Linked Data

• ClinVar Variation Id: 201339
• ClinVar RCV Id: RCV000182826 ; RCV002470800 ; RCV003137706
• dbSNP Id: rs794728792
• gnomAD v4: 1-237784320-C-T
• MyVariant Identifiers: chr1:g.237947620C>T (hg19) ; chr1:g.237784320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784320C>T , CM000663.2:g.237784320C>T	GRCh38
NC_000001.10:g.237947620C>T , CM000663.1:g.237947620C>T	GRCh37
NC_000001.9:g.236014243C>T	NCBI36
NG_008799.2:g.746919C>T
NG_008799.3:g.747137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3700C>T	ENSP00000499659.2:n.*3700C>T
ENST00000659194.3:c.12596C>T	ENSP00000499653.3:p.Ala4199Val
ENST00000660292.2:c.12629C>T	ENSP00000499787.2:p.Ala4210Val
ENST00000659194.2:c.4785C>T
ENST00000366574.7:c.12608C>T MANE Select	ENSP00000355533.2:p.Ala4203Val
ENST00000659194.1:c.4785C>T
ENST00000660292.1:c.2661C>T
ENST00000360064.7:c.12560C>T	ENSP00000353174.7:p.Ala4187Val
ENST00000366574.6:c.12608C>T	ENSP00000355533.2:p.Ala4203Val
ENST00000609119.1:n.3803C>T
NM_001035.2:c.12608C>T	NP_001026.2:p.Ala4203Val
XM_006711802.2:c.12662C>T	XP_006711865.1:p.Ala4221Val
XM_006711803.2:c.12659C>T	XP_006711866.1:p.Ala4220Val
XM_006711804.2:c.12638C>T	XP_006711867.1:p.Ala4213Val
XM_006711805.2:c.12632C>T	XP_006711868.1:p.Ala4211Val
XM_006711806.2:c.12626C>T	XP_006711869.1:p.Ala4209Val
XM_006711807.2:c.12602C>T	XP_006711870.1:p.Ala4201Val
XM_006711808.2:c.12425C>T	XP_006711871.1:p.Ala4142Val
XM_006711810.2:c.12569C>T	XP_006711873.1:p.Ala4190Val
XM_006711802.3:c.12662C>T	XP_006711865.1:p.Ala4221Val
XM_006711803.3:c.12659C>T	XP_006711866.1:p.Ala4220Val
XM_006711804.3:c.12638C>T	XP_006711867.1:p.Ala4213Val
XM_006711805.3:c.12632C>T	XP_006711868.1:p.Ala4211Val
XM_006711806.3:c.12626C>T	XP_006711869.1:p.Ala4209Val
XM_006711807.3:c.12602C>T	XP_006711870.1:p.Ala4201Val
XM_006711808.3:c.12425C>T	XP_006711871.1:p.Ala4142Val
XM_006711810.3:c.12569C>T	XP_006711873.1:p.Ala4190Val
XM_017002028.1:c.12641C>T	XP_016857517.1:p.Ala4214Val
NM_001035.3:c.12608C>T MANE Select	NP_001026.2:p.Ala4203Val