Canonical Allele Identifier: CA345413478

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947510G>T (hg19) ; chr1:g.237784210G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784210G>T , CM000663.2:g.237784210G>T	GRCh38
NC_000001.10:g.237947510G>T , CM000663.1:g.237947510G>T	GRCh37
NC_000001.9:g.236014133G>T	NCBI36
NG_008799.2:g.746809G>T
NG_008799.3:g.747027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3590G>T	ENSP00000499659.2:n.*3590G>T
ENST00000659194.3:c.12486G>T	ENSP00000499653.3:p.Lys4162Asn
ENST00000660292.2:c.12519G>T	ENSP00000499787.2:p.Lys4173Asn
ENST00000659194.2:c.4675G>T
ENST00000366574.7:c.12498G>T MANE Select	ENSP00000355533.2:p.Lys4166Asn
ENST00000659194.1:c.4675G>T
ENST00000660292.1:c.2551G>T
ENST00000360064.7:c.12450G>T	ENSP00000353174.7:p.Lys4150Asn
ENST00000366574.6:c.12498G>T	ENSP00000355533.2:p.Lys4166Asn
ENST00000609119.1:n.3693G>T
NM_001035.2:c.12498G>T	NP_001026.2:p.Lys4166Asn
XM_006711802.2:c.12552G>T	XP_006711865.1:p.Lys4184Asn
XM_006711803.2:c.12549G>T	XP_006711866.1:p.Lys4183Asn
XM_006711804.2:c.12528G>T	XP_006711867.1:p.Lys4176Asn
XM_006711805.2:c.12522G>T	XP_006711868.1:p.Lys4174Asn
XM_006711806.2:c.12516G>T	XP_006711869.1:p.Lys4172Asn
XM_006711807.2:c.12492G>T	XP_006711870.1:p.Lys4164Asn
XM_006711808.2:c.12315G>T	XP_006711871.1:p.Lys4105Asn
XM_006711810.2:c.12459G>T	XP_006711873.1:p.Lys4153Asn
XM_006711802.3:c.12552G>T	XP_006711865.1:p.Lys4184Asn
XM_006711803.3:c.12549G>T	XP_006711866.1:p.Lys4183Asn
XM_006711804.3:c.12528G>T	XP_006711867.1:p.Lys4176Asn
XM_006711805.3:c.12522G>T	XP_006711868.1:p.Lys4174Asn
XM_006711806.3:c.12516G>T	XP_006711869.1:p.Lys4172Asn
XM_006711807.3:c.12492G>T	XP_006711870.1:p.Lys4164Asn
XM_006711808.3:c.12315G>T	XP_006711871.1:p.Lys4105Asn
XM_006711810.3:c.12459G>T	XP_006711873.1:p.Lys4153Asn
XM_017002028.1:c.12531G>T	XP_016857517.1:p.Lys4177Asn
NM_001035.3:c.12498G>T MANE Select	NP_001026.2:p.Lys4166Asn