Canonical Allele Identifier: CA345413342

Gene: RYR2

Linked Data

• dbSNP Id: rs999437630
• COSMIC: COSM6439686 ; COSM6439687
• MyVariant Identifiers: chr1:g.237947470G>A (hg19) ; chr1:g.237784170G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784170G>A , CM000663.2:g.237784170G>A	GRCh38
NC_000001.10:g.237947470G>A , CM000663.1:g.237947470G>A	GRCh37
NC_000001.9:g.236014093G>A	NCBI36
NG_008799.2:g.746769G>A
NG_008799.3:g.746987G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3550G>A	ENSP00000499659.2:n.*3550G>A
ENST00000659194.3:c.12446G>A	ENSP00000499653.3:p.Ser4149Asn
ENST00000660292.2:c.12479G>A	ENSP00000499787.2:p.Ser4160Asn
ENST00000659194.2:c.4635G>A
ENST00000366574.7:c.12458G>A MANE Select	ENSP00000355533.2:p.Ser4153Asn
ENST00000659194.1:c.4635G>A
ENST00000660292.1:c.2511G>A
ENST00000360064.7:c.12410G>A	ENSP00000353174.7:p.Ser4137Asn
ENST00000366574.6:c.12458G>A	ENSP00000355533.2:p.Ser4153Asn
ENST00000609119.1:n.3653G>A
NM_001035.2:c.12458G>A	NP_001026.2:p.Ser4153Asn
XM_006711802.2:c.12512G>A	XP_006711865.1:p.Ser4171Asn
XM_006711803.2:c.12509G>A	XP_006711866.1:p.Ser4170Asn
XM_006711804.2:c.12488G>A	XP_006711867.1:p.Ser4163Asn
XM_006711805.2:c.12482G>A	XP_006711868.1:p.Ser4161Asn
XM_006711806.2:c.12476G>A	XP_006711869.1:p.Ser4159Asn
XM_006711807.2:c.12452G>A	XP_006711870.1:p.Ser4151Asn
XM_006711808.2:c.12275G>A	XP_006711871.1:p.Ser4092Asn
XM_006711810.2:c.12419G>A	XP_006711873.1:p.Ser4140Asn
XM_006711802.3:c.12512G>A	XP_006711865.1:p.Ser4171Asn
XM_006711803.3:c.12509G>A	XP_006711866.1:p.Ser4170Asn
XM_006711804.3:c.12488G>A	XP_006711867.1:p.Ser4163Asn
XM_006711805.3:c.12482G>A	XP_006711868.1:p.Ser4161Asn
XM_006711806.3:c.12476G>A	XP_006711869.1:p.Ser4159Asn
XM_006711807.3:c.12452G>A	XP_006711870.1:p.Ser4151Asn
XM_006711808.3:c.12275G>A	XP_006711871.1:p.Ser4092Asn
XM_006711810.3:c.12419G>A	XP_006711873.1:p.Ser4140Asn
XM_017002028.1:c.12491G>A	XP_016857517.1:p.Ser4164Asn
NM_001035.3:c.12458G>A MANE Select	NP_001026.2:p.Ser4153Asn