Canonical Allele Identifier: CA345413491

Gene: RYR2

Linked Data

• COSMIC: COSM369228
• MyVariant Identifiers: chr1:g.237947515C>A (hg19) ; chr1:g.237784215C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784215C>A , CM000663.2:g.237784215C>A	GRCh38
NC_000001.10:g.237947515C>A , CM000663.1:g.237947515C>A	GRCh37
NC_000001.9:g.236014138C>A	NCBI36
NG_008799.2:g.746814C>A
NG_008799.3:g.747032C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3595C>A	ENSP00000499659.2:n.*3595C>A
ENST00000659194.3:c.12491C>A	ENSP00000499653.3:p.Ser4164Tyr
ENST00000660292.2:c.12524C>A	ENSP00000499787.2:p.Ser4175Tyr
ENST00000659194.2:c.4680C>A
ENST00000366574.7:c.12503C>A MANE Select	ENSP00000355533.2:p.Ser4168Tyr
ENST00000659194.1:c.4680C>A
ENST00000660292.1:c.2556C>A
ENST00000360064.7:c.12455C>A	ENSP00000353174.7:p.Ser4152Tyr
ENST00000366574.6:c.12503C>A	ENSP00000355533.2:p.Ser4168Tyr
ENST00000609119.1:n.3698C>A
NM_001035.2:c.12503C>A	NP_001026.2:p.Ser4168Tyr
XM_006711802.2:c.12557C>A	XP_006711865.1:p.Ser4186Tyr
XM_006711803.2:c.12554C>A	XP_006711866.1:p.Ser4185Tyr
XM_006711804.2:c.12533C>A	XP_006711867.1:p.Ser4178Tyr
XM_006711805.2:c.12527C>A	XP_006711868.1:p.Ser4176Tyr
XM_006711806.2:c.12521C>A	XP_006711869.1:p.Ser4174Tyr
XM_006711807.2:c.12497C>A	XP_006711870.1:p.Ser4166Tyr
XM_006711808.2:c.12320C>A	XP_006711871.1:p.Ser4107Tyr
XM_006711810.2:c.12464C>A	XP_006711873.1:p.Ser4155Tyr
XM_006711802.3:c.12557C>A	XP_006711865.1:p.Ser4186Tyr
XM_006711803.3:c.12554C>A	XP_006711866.1:p.Ser4185Tyr
XM_006711804.3:c.12533C>A	XP_006711867.1:p.Ser4178Tyr
XM_006711805.3:c.12527C>A	XP_006711868.1:p.Ser4176Tyr
XM_006711806.3:c.12521C>A	XP_006711869.1:p.Ser4174Tyr
XM_006711807.3:c.12497C>A	XP_006711870.1:p.Ser4166Tyr
XM_006711808.3:c.12320C>A	XP_006711871.1:p.Ser4107Tyr
XM_006711810.3:c.12464C>A	XP_006711873.1:p.Ser4155Tyr
XM_017002028.1:c.12536C>A	XP_016857517.1:p.Ser4179Tyr
NM_001035.3:c.12503C>A MANE Select	NP_001026.2:p.Ser4168Tyr