Canonical Allele Identifier: CA087858

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237700418T>A , CM000663.2:g.237700418T>A	GRCh38
NC_000001.10:g.237863718T>A , CM000663.1:g.237863718T>A	GRCh37
NC_000001.9:g.235930341T>A	NCBI36
NG_008799.2:g.663017T>A
NG_008799.3:g.663235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*353T>A	ENSP00000499659.2:n.*353T>A
ENST00000659194.3:c.9318T>A	ENSP00000499653.3:p.Ser3106=
ENST00000660292.2:c.9318T>A	ENSP00000499787.2:p.Ser3106=
ENST00000659194.2:c.1507T>A
ENST00000366574.7:c.9318T>A MANE Select	ENSP00000355533.2:p.Ser3106=
ENST00000659194.1:c.1507T>A
ENST00000360064.7:c.9270T>A	ENSP00000353174.7:p.Ser3090=
ENST00000366574.6:c.9318T>A	ENSP00000355533.2:p.Ser3106=
ENST00000609119.1:n.456T>A
NM_001035.2:c.9318T>A	NP_001026.2:p.Ser3106=
XM_006711802.2:c.9348T>A	XP_006711865.1:p.Ser3116=
XM_006711803.2:c.9345T>A	XP_006711866.1:p.Ser3115=
XM_006711804.2:c.9348T>A	XP_006711867.1:p.Ser3116=
XM_006711805.2:c.9318T>A	XP_006711868.1:p.Ser3106=
XM_006711806.2:c.9348T>A	XP_006711869.1:p.Ser3116=
XM_006711807.2:c.9348T>A	XP_006711870.1:p.Ser3116=
XM_006711808.2:c.9111T>A	XP_006711871.1:p.Ser3037=
XM_006711810.2:c.9315T>A	XP_006711873.1:p.Ser3105=
XR_949152.1:n.9579T>A
XM_006711802.3:c.9348T>A	XP_006711865.1:p.Ser3116=
XM_006711803.3:c.9345T>A	XP_006711866.1:p.Ser3115=
XM_006711804.3:c.9348T>A	XP_006711867.1:p.Ser3116=
XM_006711805.3:c.9318T>A	XP_006711868.1:p.Ser3106=
XM_006711806.3:c.9348T>A	XP_006711869.1:p.Ser3116=
XM_006711807.3:c.9348T>A	XP_006711870.1:p.Ser3116=
XM_006711808.3:c.9111T>A	XP_006711871.1:p.Ser3037=
XM_006711810.3:c.9315T>A	XP_006711873.1:p.Ser3105=
XM_017002028.1:c.9327T>A	XP_016857517.1:p.Ser3109=
XR_949152.2:n.9612T>A
NM_001035.3:c.9318T>A MANE Select	NP_001026.2:p.Ser3106=