Canonical Allele Identifier: CA345413393

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947479G>A (hg19) ; chr1:g.237784179G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784179G>A , CM000663.2:g.237784179G>A	GRCh38
NC_000001.10:g.237947479G>A , CM000663.1:g.237947479G>A	GRCh37
NC_000001.9:g.236014102G>A	NCBI36
NG_008799.2:g.746778G>A
NG_008799.3:g.746996G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3559G>A	ENSP00000499659.2:n.*3559G>A
ENST00000659194.3:c.12455G>A	ENSP00000499653.3:p.Ser4152Asn
ENST00000660292.2:c.12488G>A	ENSP00000499787.2:p.Ser4163Asn
ENST00000659194.2:c.4644G>A
ENST00000366574.7:c.12467G>A MANE Select	ENSP00000355533.2:p.Ser4156Asn
ENST00000659194.1:c.4644G>A
ENST00000660292.1:c.2520G>A
ENST00000360064.7:c.12419G>A	ENSP00000353174.7:p.Ser4140Asn
ENST00000366574.6:c.12467G>A	ENSP00000355533.2:p.Ser4156Asn
ENST00000609119.1:n.3662G>A
NM_001035.2:c.12467G>A	NP_001026.2:p.Ser4156Asn
XM_006711802.2:c.12521G>A	XP_006711865.1:p.Ser4174Asn
XM_006711803.2:c.12518G>A	XP_006711866.1:p.Ser4173Asn
XM_006711804.2:c.12497G>A	XP_006711867.1:p.Ser4166Asn
XM_006711805.2:c.12491G>A	XP_006711868.1:p.Ser4164Asn
XM_006711806.2:c.12485G>A	XP_006711869.1:p.Ser4162Asn
XM_006711807.2:c.12461G>A	XP_006711870.1:p.Ser4154Asn
XM_006711808.2:c.12284G>A	XP_006711871.1:p.Ser4095Asn
XM_006711810.2:c.12428G>A	XP_006711873.1:p.Ser4143Asn
XM_006711802.3:c.12521G>A	XP_006711865.1:p.Ser4174Asn
XM_006711803.3:c.12518G>A	XP_006711866.1:p.Ser4173Asn
XM_006711804.3:c.12497G>A	XP_006711867.1:p.Ser4166Asn
XM_006711805.3:c.12491G>A	XP_006711868.1:p.Ser4164Asn
XM_006711806.3:c.12485G>A	XP_006711869.1:p.Ser4162Asn
XM_006711807.3:c.12461G>A	XP_006711870.1:p.Ser4154Asn
XM_006711808.3:c.12284G>A	XP_006711871.1:p.Ser4095Asn
XM_006711810.3:c.12428G>A	XP_006711873.1:p.Ser4143Asn
XM_017002028.1:c.12500G>A	XP_016857517.1:p.Ser4167Asn
NM_001035.3:c.12467G>A MANE Select	NP_001026.2:p.Ser4156Asn