Canonical Allele Identifier: CA345412850

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237783980C>G , CM000663.2:g.237783980C>G	GRCh38
NC_000001.10:g.237947280C>G , CM000663.1:g.237947280C>G	GRCh37
NC_000001.9:g.236013903C>G	NCBI36
NG_008799.2:g.746579C>G
NG_008799.3:g.746797C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12268C>G MANE Select	NP_001026.2:p.Pro4090Ala
ENST00000366574.7:c.12268C>G MANE Select	ENSP00000355533.2:p.Pro4090Ala
NM_001035.2:c.12268C>G	NP_001026.2:p.Pro4090Ala
ENST00000360064.7:c.12220C>G	ENSP00000353174.7:p.Pro4074Ala
ENST00000366574.6:c.12268C>G	ENSP00000355533.2:p.Pro4090Ala
ENST00000609119.1:n.3463C>G
ENST00000609119.2:c.*3360C>G	ENSP00000499659.2:n.*3360C>G
ENST00000659194.1:c.4445C>G
ENST00000659194.2:c.4445C>G
ENST00000659194.3:c.12256C>G	ENSP00000499653.3:p.Pro4086Ala
ENST00000660292.1:c.2321C>G
ENST00000660292.2:c.12289C>G	ENSP00000499787.2:p.Pro4097Ala
XM_006711802.2:c.12322C>G	XP_006711865.1:p.Pro4108Ala
XM_006711802.3:c.12322C>G	XP_006711865.1:p.Pro4108Ala
XM_006711803.2:c.12319C>G	XP_006711866.1:p.Pro4107Ala
XM_006711803.3:c.12319C>G	XP_006711866.1:p.Pro4107Ala
XM_006711804.2:c.12298C>G	XP_006711867.1:p.Pro4100Ala
XM_006711804.3:c.12298C>G	XP_006711867.1:p.Pro4100Ala
XM_006711805.2:c.12292C>G	XP_006711868.1:p.Pro4098Ala
XM_006711805.3:c.12292C>G	XP_006711868.1:p.Pro4098Ala
XM_006711806.2:c.12286C>G	XP_006711869.1:p.Pro4096Ala
XM_006711806.3:c.12286C>G	XP_006711869.1:p.Pro4096Ala
XM_006711807.2:c.12262C>G	XP_006711870.1:p.Pro4088Ala
XM_006711807.3:c.12262C>G	XP_006711870.1:p.Pro4088Ala
XM_006711808.2:c.12085C>G	XP_006711871.1:p.Pro4029Ala
XM_006711808.3:c.12085C>G	XP_006711871.1:p.Pro4029Ala
XM_006711810.2:c.12229C>G	XP_006711873.1:p.Pro4077Ala
XM_006711810.3:c.12229C>G	XP_006711873.1:p.Pro4077Ala
XM_017002028.1:c.12301C>G	XP_016857517.1:p.Pro4101Ala