Canonical Allele Identifier: CA345412858

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783984C>G , CM000663.2:g.237783984C>G	GRCh38
NC_000001.10:g.237947284C>G , CM000663.1:g.237947284C>G	GRCh37
NC_000001.9:g.236013907C>G	NCBI36
NG_008799.2:g.746583C>G
NG_008799.3:g.746801C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12272C>G MANE Select	NP_001026.2:p.Ala4091Gly
ENST00000366574.7:c.12272C>G MANE Select	ENSP00000355533.2:p.Ala4091Gly
NM_001035.2:c.12272C>G	NP_001026.2:p.Ala4091Gly
ENST00000360064.7:c.12224C>G	ENSP00000353174.7:p.Ala4075Gly
ENST00000366574.6:c.12272C>G	ENSP00000355533.2:p.Ala4091Gly
ENST00000609119.1:n.3467C>G
ENST00000609119.2:c.*3364C>G	ENSP00000499659.2:n.*3364C>G
ENST00000659194.1:c.4449C>G
ENST00000659194.2:c.4449C>G
ENST00000659194.3:c.12260C>G	ENSP00000499653.3:p.Ala4087Gly
ENST00000660292.1:c.2325C>G
ENST00000660292.2:c.12293C>G	ENSP00000499787.2:p.Ala4098Gly
XM_006711802.2:c.12326C>G	XP_006711865.1:p.Ala4109Gly
XM_006711802.3:c.12326C>G	XP_006711865.1:p.Ala4109Gly
XM_006711803.2:c.12323C>G	XP_006711866.1:p.Ala4108Gly
XM_006711803.3:c.12323C>G	XP_006711866.1:p.Ala4108Gly
XM_006711804.2:c.12302C>G	XP_006711867.1:p.Ala4101Gly
XM_006711804.3:c.12302C>G	XP_006711867.1:p.Ala4101Gly
XM_006711805.2:c.12296C>G	XP_006711868.1:p.Ala4099Gly
XM_006711805.3:c.12296C>G	XP_006711868.1:p.Ala4099Gly
XM_006711806.2:c.12290C>G	XP_006711869.1:p.Ala4097Gly
XM_006711806.3:c.12290C>G	XP_006711869.1:p.Ala4097Gly
XM_006711807.2:c.12266C>G	XP_006711870.1:p.Ala4089Gly
XM_006711807.3:c.12266C>G	XP_006711870.1:p.Ala4089Gly
XM_006711808.2:c.12089C>G	XP_006711871.1:p.Ala4030Gly
XM_006711808.3:c.12089C>G	XP_006711871.1:p.Ala4030Gly
XM_006711810.2:c.12233C>G	XP_006711873.1:p.Ala4078Gly
XM_006711810.3:c.12233C>G	XP_006711873.1:p.Ala4078Gly
XM_017002028.1:c.12305C>G	XP_016857517.1:p.Ala4102Gly