Canonical Allele Identifier: CA345410823

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237832586G>A , CM000663.2:g.237832586G>A	GRCh38
NC_000001.10:g.237995886G>A , CM000663.1:g.237995886G>A	GRCh37
NC_000001.9:g.236062509G>A	NCBI36
NG_008799.2:g.795185G>A
NG_008799.3:g.795403G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14843G>A MANE Select	NP_001026.2:p.Cys4948Tyr
ENST00000366574.7:c.14843G>A MANE Select	ENSP00000355533.2:p.Cys4948Tyr
NM_001035.2:c.14843G>A	NP_001026.2:p.Cys4948Tyr
ENST00000360064.7:c.14792G>A	ENSP00000353174.7:p.Cys4931Tyr
ENST00000366574.6:c.14843G>A	ENSP00000355533.2:p.Cys4948Tyr
ENST00000462585.1:n.686G>A
ENST00000608590.5:n.1253G>A
ENST00000609119.2:c.*5935G>A	ENSP00000499659.2:n.*5935G>A
ENST00000659194.2:c.7014G>A
ENST00000659194.3:c.14825G>A	ENSP00000499653.3:p.Cys4942Tyr
ENST00000660292.2:c.14864G>A	ENSP00000499787.2:p.Cys4955Tyr
XM_006711802.2:c.14897G>A	XP_006711865.1:p.Cys4966Tyr
XM_006711802.3:c.14897G>A	XP_006711865.1:p.Cys4966Tyr
XM_006711803.2:c.14894G>A	XP_006711866.1:p.Cys4965Tyr
XM_006711803.3:c.14894G>A	XP_006711866.1:p.Cys4965Tyr
XM_006711804.2:c.14873G>A	XP_006711867.1:p.Cys4958Tyr
XM_006711804.3:c.14873G>A	XP_006711867.1:p.Cys4958Tyr
XM_006711805.2:c.14867G>A	XP_006711868.1:p.Cys4956Tyr
XM_006711805.3:c.14867G>A	XP_006711868.1:p.Cys4956Tyr
XM_006711806.2:c.14861G>A	XP_006711869.1:p.Cys4954Tyr
XM_006711806.3:c.14861G>A	XP_006711869.1:p.Cys4954Tyr
XM_006711807.2:c.14837G>A	XP_006711870.1:p.Cys4946Tyr
XM_006711807.3:c.14837G>A	XP_006711870.1:p.Cys4946Tyr
XM_006711808.2:c.14660G>A	XP_006711871.1:p.Cys4887Tyr
XM_006711808.3:c.14660G>A	XP_006711871.1:p.Cys4887Tyr
XM_006711810.2:c.14804G>A	XP_006711873.1:p.Cys4935Tyr
XM_006711810.3:c.14804G>A	XP_006711873.1:p.Cys4935Tyr
XM_017002028.1:c.14876G>A	XP_016857517.1:p.Cys4959Tyr