Canonical Allele Identifier: CA007186

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778726G>A , CM000663.2:g.237778726G>A	GRCh38
NC_000001.10:g.237942026G>A , CM000663.1:g.237942026G>A	GRCh37
NC_000001.9:g.236008649G>A	NCBI36
NG_008799.2:g.741325G>A
NG_008799.3:g.741543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2928G>A	ENSP00000499659.2:n.*2928G>A
ENST00000659194.3:c.11824G>A	ENSP00000499653.3:p.Gly3942Ser
ENST00000660292.2:c.11857G>A	ENSP00000499787.2:p.Gly3953Ser
ENST00000659194.2:c.4013G>A
ENST00000366574.7:c.11836G>A MANE Select	ENSP00000355533.2:p.Gly3946Ser
ENST00000659194.1:c.4013G>A
ENST00000660292.1:c.1889G>A
ENST00000360064.7:c.11788G>A	ENSP00000353174.7:p.Gly3930Ser
ENST00000366574.6:c.11836G>A	ENSP00000355533.2:p.Gly3946Ser
ENST00000609119.1:n.3031G>A
NM_001035.2:c.11836G>A	NP_001026.2:p.Gly3946Ser
XM_006711802.2:c.11890G>A	XP_006711865.1:p.Gly3964Ser
XM_006711803.2:c.11887G>A	XP_006711866.1:p.Gly3963Ser
XM_006711804.2:c.11866G>A	XP_006711867.1:p.Gly3956Ser
XM_006711805.2:c.11860G>A	XP_006711868.1:p.Gly3954Ser
XM_006711806.2:c.11854G>A	XP_006711869.1:p.Gly3952Ser
XM_006711807.2:c.11830G>A	XP_006711870.1:p.Gly3944Ser
XM_006711808.2:c.11653G>A	XP_006711871.1:p.Gly3885Ser
XM_006711810.2:c.11797G>A	XP_006711873.1:p.Gly3933Ser
XM_006711802.3:c.11890G>A	XP_006711865.1:p.Gly3964Ser
XM_006711803.3:c.11887G>A	XP_006711866.1:p.Gly3963Ser
XM_006711804.3:c.11866G>A	XP_006711867.1:p.Gly3956Ser
XM_006711805.3:c.11860G>A	XP_006711868.1:p.Gly3954Ser
XM_006711806.3:c.11854G>A	XP_006711869.1:p.Gly3952Ser
XM_006711807.3:c.11830G>A	XP_006711870.1:p.Gly3944Ser
XM_006711808.3:c.11653G>A	XP_006711871.1:p.Gly3885Ser
XM_006711810.3:c.11797G>A	XP_006711873.1:p.Gly3933Ser
XM_017002028.1:c.11869G>A	XP_016857517.1:p.Gly3957Ser
NM_001035.3:c.11836G>A MANE Select	NP_001026.2:p.Gly3946Ser