Canonical Allele Identifier: CA345413499

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947518A>T (hg19) ; chr1:g.237784218A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784218A>T , CM000663.2:g.237784218A>T	GRCh38
NC_000001.10:g.237947518A>T , CM000663.1:g.237947518A>T	GRCh37
NC_000001.9:g.236014141A>T	NCBI36
NG_008799.2:g.746817A>T
NG_008799.3:g.747035A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3598A>T	ENSP00000499659.2:n.*3598A>T
ENST00000659194.3:c.12494A>T	ENSP00000499653.3:p.Lys4165Ile
ENST00000660292.2:c.12527A>T	ENSP00000499787.2:p.Lys4176Ile
ENST00000659194.2:c.4683A>T
ENST00000366574.7:c.12506A>T MANE Select	ENSP00000355533.2:p.Lys4169Ile
ENST00000659194.1:c.4683A>T
ENST00000660292.1:c.2559A>T
ENST00000360064.7:c.12458A>T	ENSP00000353174.7:p.Lys4153Ile
ENST00000366574.6:c.12506A>T	ENSP00000355533.2:p.Lys4169Ile
ENST00000609119.1:n.3701A>T
NM_001035.2:c.12506A>T	NP_001026.2:p.Lys4169Ile
XM_006711802.2:c.12560A>T	XP_006711865.1:p.Lys4187Ile
XM_006711803.2:c.12557A>T	XP_006711866.1:p.Lys4186Ile
XM_006711804.2:c.12536A>T	XP_006711867.1:p.Lys4179Ile
XM_006711805.2:c.12530A>T	XP_006711868.1:p.Lys4177Ile
XM_006711806.2:c.12524A>T	XP_006711869.1:p.Lys4175Ile
XM_006711807.2:c.12500A>T	XP_006711870.1:p.Lys4167Ile
XM_006711808.2:c.12323A>T	XP_006711871.1:p.Lys4108Ile
XM_006711810.2:c.12467A>T	XP_006711873.1:p.Lys4156Ile
XM_006711802.3:c.12560A>T	XP_006711865.1:p.Lys4187Ile
XM_006711803.3:c.12557A>T	XP_006711866.1:p.Lys4186Ile
XM_006711804.3:c.12536A>T	XP_006711867.1:p.Lys4179Ile
XM_006711805.3:c.12530A>T	XP_006711868.1:p.Lys4177Ile
XM_006711806.3:c.12524A>T	XP_006711869.1:p.Lys4175Ile
XM_006711807.3:c.12500A>T	XP_006711870.1:p.Lys4167Ile
XM_006711808.3:c.12323A>T	XP_006711871.1:p.Lys4108Ile
XM_006711810.3:c.12467A>T	XP_006711873.1:p.Lys4156Ile
XM_017002028.1:c.12539A>T	XP_016857517.1:p.Lys4180Ile
NM_001035.3:c.12506A>T MANE Select	NP_001026.2:p.Lys4169Ile