Canonical Allele Identifier: CA007088

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237772042G>A , CM000663.2:g.237772042G>A	GRCh38
NC_000001.10:g.237935342G>A , CM000663.1:g.237935342G>A	GRCh37
NC_000001.9:g.236001965G>A	NCBI36
NG_008799.2:g.734641G>A
NG_008799.3:g.734859G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2680G>A	ENSP00000499659.2:n.*2680G>A
ENST00000659194.3:c.11576G>A	ENSP00000499653.3:p.Gly3859Asp
ENST00000660292.2:c.11609G>A	ENSP00000499787.2:p.Gly3870Asp
ENST00000659194.2:c.3765G>A
ENST00000366574.7:c.11588G>A MANE Select	ENSP00000355533.2:p.Gly3863Asp
ENST00000659194.1:c.3765G>A
ENST00000660292.1:c.1641G>A
ENST00000360064.7:c.11540G>A	ENSP00000353174.7:p.Gly3847Asp
ENST00000366574.6:c.11588G>A	ENSP00000355533.2:p.Gly3863Asp
ENST00000609119.1:n.2783G>A
NM_001035.2:c.11588G>A	NP_001026.2:p.Gly3863Asp
XM_006711802.2:c.11642G>A	XP_006711865.1:p.Gly3881Asp
XM_006711803.2:c.11639G>A	XP_006711866.1:p.Gly3880Asp
XM_006711804.2:c.11618G>A	XP_006711867.1:p.Gly3873Asp
XM_006711805.2:c.11612G>A	XP_006711868.1:p.Gly3871Asp
XM_006711806.2:c.11606G>A	XP_006711869.1:p.Gly3869Asp
XM_006711807.2:c.11582G>A	XP_006711870.1:p.Gly3861Asp
XM_006711808.2:c.11405G>A	XP_006711871.1:p.Gly3802Asp
XM_006711810.2:c.11549G>A	XP_006711873.1:p.Gly3850Asp
XM_006711802.3:c.11642G>A	XP_006711865.1:p.Gly3881Asp
XM_006711803.3:c.11639G>A	XP_006711866.1:p.Gly3880Asp
XM_006711804.3:c.11618G>A	XP_006711867.1:p.Gly3873Asp
XM_006711805.3:c.11612G>A	XP_006711868.1:p.Gly3871Asp
XM_006711806.3:c.11606G>A	XP_006711869.1:p.Gly3869Asp
XM_006711807.3:c.11582G>A	XP_006711870.1:p.Gly3861Asp
XM_006711808.3:c.11405G>A	XP_006711871.1:p.Gly3802Asp
XM_006711810.3:c.11549G>A	XP_006711873.1:p.Gly3850Asp
XM_017002028.1:c.11621G>A	XP_016857517.1:p.Gly3874Asp
NM_001035.3:c.11588G>A MANE Select	NP_001026.2:p.Gly3863Asp