Canonical Allele Identifier: CA345413032

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947365T>A (hg19) ; chr1:g.237784065T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784065T>A , CM000663.2:g.237784065T>A	GRCh38
NC_000001.10:g.237947365T>A , CM000663.1:g.237947365T>A	GRCh37
NC_000001.9:g.236013988T>A	NCBI36
NG_008799.2:g.746664T>A
NG_008799.3:g.746882T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3445T>A	ENSP00000499659.2:n.*3445T>A
ENST00000659194.3:c.12341T>A	ENSP00000499653.3:p.Phe4114Tyr
ENST00000660292.2:c.12374T>A	ENSP00000499787.2:p.Phe4125Tyr
ENST00000659194.2:c.4530T>A
ENST00000366574.7:c.12353T>A MANE Select	ENSP00000355533.2:p.Phe4118Tyr
ENST00000659194.1:c.4530T>A
ENST00000660292.1:c.2406T>A
ENST00000360064.7:c.12305T>A	ENSP00000353174.7:p.Phe4102Tyr
ENST00000366574.6:c.12353T>A	ENSP00000355533.2:p.Phe4118Tyr
ENST00000609119.1:n.3548T>A
NM_001035.2:c.12353T>A	NP_001026.2:p.Phe4118Tyr
XM_006711802.2:c.12407T>A	XP_006711865.1:p.Phe4136Tyr
XM_006711803.2:c.12404T>A	XP_006711866.1:p.Phe4135Tyr
XM_006711804.2:c.12383T>A	XP_006711867.1:p.Phe4128Tyr
XM_006711805.2:c.12377T>A	XP_006711868.1:p.Phe4126Tyr
XM_006711806.2:c.12371T>A	XP_006711869.1:p.Phe4124Tyr
XM_006711807.2:c.12347T>A	XP_006711870.1:p.Phe4116Tyr
XM_006711808.2:c.12170T>A	XP_006711871.1:p.Phe4057Tyr
XM_006711810.2:c.12314T>A	XP_006711873.1:p.Phe4105Tyr
XM_006711802.3:c.12407T>A	XP_006711865.1:p.Phe4136Tyr
XM_006711803.3:c.12404T>A	XP_006711866.1:p.Phe4135Tyr
XM_006711804.3:c.12383T>A	XP_006711867.1:p.Phe4128Tyr
XM_006711805.3:c.12377T>A	XP_006711868.1:p.Phe4126Tyr
XM_006711806.3:c.12371T>A	XP_006711869.1:p.Phe4124Tyr
XM_006711807.3:c.12347T>A	XP_006711870.1:p.Phe4116Tyr
XM_006711808.3:c.12170T>A	XP_006711871.1:p.Phe4057Tyr
XM_006711810.3:c.12314T>A	XP_006711873.1:p.Phe4105Tyr
XM_017002028.1:c.12386T>A	XP_016857517.1:p.Phe4129Tyr
NM_001035.3:c.12353T>A MANE Select	NP_001026.2:p.Phe4118Tyr