Canonical Allele Identifier: CA085368

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237788069C>T , CM000663.2:g.237788069C>T	GRCh38
NC_000001.10:g.237951369C>T , CM000663.1:g.237951369C>T	GRCh37
NC_000001.9:g.236017992C>T	NCBI36
NG_008799.2:g.750668C>T
NG_008799.3:g.750886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4502C>T	ENSP00000499659.2:n.*4502C>T
ENST00000659194.3:c.13392C>T	ENSP00000499653.3:p.Tyr4464=
ENST00000660292.2:c.13431C>T	ENSP00000499787.2:p.Tyr4477=
ENST00000659194.2:c.5581C>T
ENST00000366574.7:c.13410C>T MANE Select	ENSP00000355533.2:p.Tyr4470=
ENST00000660292.1:c.3463C>T
ENST00000360064.7:c.13359C>T	ENSP00000353174.7:p.Tyr4453=
ENST00000366574.6:c.13410C>T	ENSP00000355533.2:p.Tyr4470=
NM_001035.2:c.13410C>T	NP_001026.2:p.Tyr4470=
XM_006711802.2:c.13464C>T	XP_006711865.1:p.Tyr4488=
XM_006711803.2:c.13461C>T	XP_006711866.1:p.Tyr4487=
XM_006711804.2:c.13440C>T	XP_006711867.1:p.Tyr4480=
XM_006711805.2:c.13434C>T	XP_006711868.1:p.Tyr4478=
XM_006711806.2:c.13428C>T	XP_006711869.1:p.Tyr4476=
XM_006711807.2:c.13404C>T	XP_006711870.1:p.Tyr4468=
XM_006711808.2:c.13227C>T	XP_006711871.1:p.Tyr4409=
XM_006711810.2:c.13371C>T	XP_006711873.1:p.Tyr4457=
XM_006711802.3:c.13464C>T	XP_006711865.1:p.Tyr4488=
XM_006711803.3:c.13461C>T	XP_006711866.1:p.Tyr4487=
XM_006711804.3:c.13440C>T	XP_006711867.1:p.Tyr4480=
XM_006711805.3:c.13434C>T	XP_006711868.1:p.Tyr4478=
XM_006711806.3:c.13428C>T	XP_006711869.1:p.Tyr4476=
XM_006711807.3:c.13404C>T	XP_006711870.1:p.Tyr4468=
XM_006711808.3:c.13227C>T	XP_006711871.1:p.Tyr4409=
XM_006711810.3:c.13371C>T	XP_006711873.1:p.Tyr4457=
XM_017002028.1:c.13443C>T	XP_016857517.1:p.Tyr4481=
NM_001035.3:c.13410C>T MANE Select	NP_001026.2:p.Tyr4470=