Canonical Allele Identifier: CA345413376

Gene: RYR2

Linked Data

• ClinVar Variation Id: 1410932
• ClinVar RCV Id: RCV002555798
• dbSNP Id: rs2149353940
• COSMIC: COSM3804518 ; COSM3804519
• MyVariant Identifiers: chr1:g.237947476C>A (hg19) ; chr1:g.237784176C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784176C>A , CM000663.2:g.237784176C>A	GRCh38
NC_000001.10:g.237947476C>A , CM000663.1:g.237947476C>A	GRCh37
NC_000001.9:g.236014099C>A	NCBI36
NG_008799.2:g.746775C>A
NG_008799.3:g.746993C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3556C>A	ENSP00000499659.2:n.*3556C>A
ENST00000659194.3:c.12452C>A	ENSP00000499653.3:p.Ser4151Tyr
ENST00000660292.2:c.12485C>A	ENSP00000499787.2:p.Ser4162Tyr
ENST00000659194.2:c.4641C>A
ENST00000366574.7:c.12464C>A MANE Select	ENSP00000355533.2:p.Ser4155Tyr
ENST00000659194.1:c.4641C>A
ENST00000660292.1:c.2517C>A
ENST00000360064.7:c.12416C>A	ENSP00000353174.7:p.Ser4139Tyr
ENST00000366574.6:c.12464C>A	ENSP00000355533.2:p.Ser4155Tyr
ENST00000609119.1:n.3659C>A
NM_001035.2:c.12464C>A	NP_001026.2:p.Ser4155Tyr
XM_006711802.2:c.12518C>A	XP_006711865.1:p.Ser4173Tyr
XM_006711803.2:c.12515C>A	XP_006711866.1:p.Ser4172Tyr
XM_006711804.2:c.12494C>A	XP_006711867.1:p.Ser4165Tyr
XM_006711805.2:c.12488C>A	XP_006711868.1:p.Ser4163Tyr
XM_006711806.2:c.12482C>A	XP_006711869.1:p.Ser4161Tyr
XM_006711807.2:c.12458C>A	XP_006711870.1:p.Ser4153Tyr
XM_006711808.2:c.12281C>A	XP_006711871.1:p.Ser4094Tyr
XM_006711810.2:c.12425C>A	XP_006711873.1:p.Ser4142Tyr
XM_006711802.3:c.12518C>A	XP_006711865.1:p.Ser4173Tyr
XM_006711803.3:c.12515C>A	XP_006711866.1:p.Ser4172Tyr
XM_006711804.3:c.12494C>A	XP_006711867.1:p.Ser4165Tyr
XM_006711805.3:c.12488C>A	XP_006711868.1:p.Ser4163Tyr
XM_006711806.3:c.12482C>A	XP_006711869.1:p.Ser4161Tyr
XM_006711807.3:c.12458C>A	XP_006711870.1:p.Ser4153Tyr
XM_006711808.3:c.12281C>A	XP_006711871.1:p.Ser4094Tyr
XM_006711810.3:c.12425C>A	XP_006711873.1:p.Ser4142Tyr
XM_017002028.1:c.12497C>A	XP_016857517.1:p.Ser4166Tyr
NM_001035.3:c.12464C>A MANE Select	NP_001026.2:p.Ser4155Tyr