Canonical Allele Identifier: CA345412963

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784034C>T , CM000663.2:g.237784034C>T	GRCh38
NC_000001.10:g.237947334C>T , CM000663.1:g.237947334C>T	GRCh37
NC_000001.9:g.236013957C>T	NCBI36
NG_008799.2:g.746633C>T
NG_008799.3:g.746851C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12322C>T MANE Select	NP_001026.2:p.His4108Tyr
ENST00000366574.7:c.12322C>T MANE Select	ENSP00000355533.2:p.His4108Tyr
NM_001035.2:c.12322C>T	NP_001026.2:p.His4108Tyr
ENST00000360064.7:c.12274C>T	ENSP00000353174.7:p.His4092Tyr
ENST00000366574.6:c.12322C>T	ENSP00000355533.2:p.His4108Tyr
ENST00000609119.1:n.3517C>T
ENST00000609119.2:c.*3414C>T	ENSP00000499659.2:n.*3414C>T
ENST00000659194.1:c.4499C>T
ENST00000659194.2:c.4499C>T
ENST00000659194.3:c.12310C>T	ENSP00000499653.3:p.His4104Tyr
ENST00000660292.1:c.2375C>T
ENST00000660292.2:c.12343C>T	ENSP00000499787.2:p.His4115Tyr
XM_006711802.2:c.12376C>T	XP_006711865.1:p.His4126Tyr
XM_006711802.3:c.12376C>T	XP_006711865.1:p.His4126Tyr
XM_006711803.2:c.12373C>T	XP_006711866.1:p.His4125Tyr
XM_006711803.3:c.12373C>T	XP_006711866.1:p.His4125Tyr
XM_006711804.2:c.12352C>T	XP_006711867.1:p.His4118Tyr
XM_006711804.3:c.12352C>T	XP_006711867.1:p.His4118Tyr
XM_006711805.2:c.12346C>T	XP_006711868.1:p.His4116Tyr
XM_006711805.3:c.12346C>T	XP_006711868.1:p.His4116Tyr
XM_006711806.2:c.12340C>T	XP_006711869.1:p.His4114Tyr
XM_006711806.3:c.12340C>T	XP_006711869.1:p.His4114Tyr
XM_006711807.2:c.12316C>T	XP_006711870.1:p.His4106Tyr
XM_006711807.3:c.12316C>T	XP_006711870.1:p.His4106Tyr
XM_006711808.2:c.12139C>T	XP_006711871.1:p.His4047Tyr
XM_006711808.3:c.12139C>T	XP_006711871.1:p.His4047Tyr
XM_006711810.2:c.12283C>T	XP_006711873.1:p.His4095Tyr
XM_006711810.3:c.12283C>T	XP_006711873.1:p.His4095Tyr
XM_017002028.1:c.12355C>T	XP_016857517.1:p.His4119Tyr