Canonical Allele Identifier: CA345413013

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784056T>G , CM000663.2:g.237784056T>G	GRCh38
NC_000001.10:g.237947356T>G , CM000663.1:g.237947356T>G	GRCh37
NC_000001.9:g.236013979T>G	NCBI36
NG_008799.2:g.746655T>G
NG_008799.3:g.746873T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.12344T>G MANE Select	NP_001026.2:p.Leu4115Arg
ENST00000366574.7:c.12344T>G MANE Select	ENSP00000355533.2:p.Leu4115Arg
NM_001035.2:c.12344T>G	NP_001026.2:p.Leu4115Arg
ENST00000360064.7:c.12296T>G	ENSP00000353174.7:p.Leu4099Arg
ENST00000366574.6:c.12344T>G	ENSP00000355533.2:p.Leu4115Arg
ENST00000609119.1:n.3539T>G
ENST00000609119.2:c.*3436T>G	ENSP00000499659.2:n.*3436T>G
ENST00000659194.1:c.4521T>G
ENST00000659194.2:c.4521T>G
ENST00000659194.3:c.12332T>G	ENSP00000499653.3:p.Leu4111Arg
ENST00000660292.1:c.2397T>G
ENST00000660292.2:c.12365T>G	ENSP00000499787.2:p.Leu4122Arg
XM_006711802.2:c.12398T>G	XP_006711865.1:p.Leu4133Arg
XM_006711802.3:c.12398T>G	XP_006711865.1:p.Leu4133Arg
XM_006711803.2:c.12395T>G	XP_006711866.1:p.Leu4132Arg
XM_006711803.3:c.12395T>G	XP_006711866.1:p.Leu4132Arg
XM_006711804.2:c.12374T>G	XP_006711867.1:p.Leu4125Arg
XM_006711804.3:c.12374T>G	XP_006711867.1:p.Leu4125Arg
XM_006711805.2:c.12368T>G	XP_006711868.1:p.Leu4123Arg
XM_006711805.3:c.12368T>G	XP_006711868.1:p.Leu4123Arg
XM_006711806.2:c.12362T>G	XP_006711869.1:p.Leu4121Arg
XM_006711806.3:c.12362T>G	XP_006711869.1:p.Leu4121Arg
XM_006711807.2:c.12338T>G	XP_006711870.1:p.Leu4113Arg
XM_006711807.3:c.12338T>G	XP_006711870.1:p.Leu4113Arg
XM_006711808.2:c.12161T>G	XP_006711871.1:p.Leu4054Arg
XM_006711808.3:c.12161T>G	XP_006711871.1:p.Leu4054Arg
XM_006711810.2:c.12305T>G	XP_006711873.1:p.Leu4102Arg
XM_006711810.3:c.12305T>G	XP_006711873.1:p.Leu4102Arg
XM_017002028.1:c.12377T>G	XP_016857517.1:p.Leu4126Arg