Canonical Allele Identifier: CA345412943

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784025C>T , CM000663.2:g.237784025C>T	GRCh38
NC_000001.10:g.237947325C>T , CM000663.1:g.237947325C>T	GRCh37
NC_000001.9:g.236013948C>T	NCBI36
NG_008799.2:g.746624C>T
NG_008799.3:g.746842C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12313C>T MANE Select	NP_001026.2:p.Leu4105Phe
ENST00000366574.7:c.12313C>T MANE Select	ENSP00000355533.2:p.Leu4105Phe
NM_001035.2:c.12313C>T	NP_001026.2:p.Leu4105Phe
ENST00000360064.7:c.12265C>T	ENSP00000353174.7:p.Leu4089Phe
ENST00000366574.6:c.12313C>T	ENSP00000355533.2:p.Leu4105Phe
ENST00000609119.1:n.3508C>T
ENST00000609119.2:c.*3405C>T	ENSP00000499659.2:n.*3405C>T
ENST00000659194.1:c.4490C>T
ENST00000659194.2:c.4490C>T
ENST00000659194.3:c.12301C>T	ENSP00000499653.3:p.Leu4101Phe
ENST00000660292.1:c.2366C>T
ENST00000660292.2:c.12334C>T	ENSP00000499787.2:p.Leu4112Phe
XM_006711802.2:c.12367C>T	XP_006711865.1:p.Leu4123Phe
XM_006711802.3:c.12367C>T	XP_006711865.1:p.Leu4123Phe
XM_006711803.2:c.12364C>T	XP_006711866.1:p.Leu4122Phe
XM_006711803.3:c.12364C>T	XP_006711866.1:p.Leu4122Phe
XM_006711804.2:c.12343C>T	XP_006711867.1:p.Leu4115Phe
XM_006711804.3:c.12343C>T	XP_006711867.1:p.Leu4115Phe
XM_006711805.2:c.12337C>T	XP_006711868.1:p.Leu4113Phe
XM_006711805.3:c.12337C>T	XP_006711868.1:p.Leu4113Phe
XM_006711806.2:c.12331C>T	XP_006711869.1:p.Leu4111Phe
XM_006711806.3:c.12331C>T	XP_006711869.1:p.Leu4111Phe
XM_006711807.2:c.12307C>T	XP_006711870.1:p.Leu4103Phe
XM_006711807.3:c.12307C>T	XP_006711870.1:p.Leu4103Phe
XM_006711808.2:c.12130C>T	XP_006711871.1:p.Leu4044Phe
XM_006711808.3:c.12130C>T	XP_006711871.1:p.Leu4044Phe
XM_006711810.2:c.12274C>T	XP_006711873.1:p.Leu4092Phe
XM_006711810.3:c.12274C>T	XP_006711873.1:p.Leu4092Phe
XM_017002028.1:c.12346C>T	XP_016857517.1:p.Leu4116Phe