Canonical Allele Identifier: CA2487418009

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237627998C= , CM000663.2:g.237627998C=	GRCh38
NC_000001.10:g.237791298C= , CM000663.1:g.237791298C=	GRCh37
NC_000001.9:g.235857921C=	NCBI36
NG_008799.2:g.590597C=
NG_008799.3:g.590815C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6358C=	ENSP00000499659.2:p.Leu2120=
ENST00000659194.3:c.6358C=	ENSP00000499653.3:p.Leu2120=
ENST00000660292.2:c.6358C=	ENSP00000499787.2:p.Leu2120=
ENST00000366574.7:c.6358C= MANE Select	ENSP00000355533.2:p.Leu2120=
ENST00000360064.7:c.6310C=	ENSP00000353174.7:p.Leu2104=
ENST00000366574.6:c.6358C=	ENSP00000355533.2:p.Leu2120=
NM_001035.2:c.6358C=	NP_001026.2:p.Leu2120=
XM_006711802.2:c.6388C=	XP_006711865.1:p.Leu2130=
XM_006711803.2:c.6385C=	XP_006711866.1:p.Leu2129=
XM_006711804.2:c.6388C=	XP_006711867.1:p.Leu2130=
XM_006711805.2:c.6358C=	XP_006711868.1:p.Leu2120=
XM_006711806.2:c.6388C=	XP_006711869.1:p.Leu2130=
XM_006711807.2:c.6388C=	XP_006711870.1:p.Leu2130=
XM_006711808.2:c.6388C=	XP_006711871.1:p.Leu2130=
XM_006711809.2:c.6388C=	XP_006711872.1:p.Leu2130=
XM_006711810.2:c.6355C=	XP_006711873.1:p.Leu2119=
XR_949152.1:n.6669C=
XM_006711802.3:c.6388C=	XP_006711865.1:p.Leu2130=
XM_006711803.3:c.6385C=	XP_006711866.1:p.Leu2129=
XM_006711804.3:c.6388C=	XP_006711867.1:p.Leu2130=
XM_006711805.3:c.6358C=	XP_006711868.1:p.Leu2120=
XM_006711806.3:c.6388C=	XP_006711869.1:p.Leu2130=
XM_006711807.3:c.6388C=	XP_006711870.1:p.Leu2130=
XM_006711808.3:c.6388C=	XP_006711871.1:p.Leu2130=
XM_006711810.3:c.6355C=	XP_006711873.1:p.Leu2119=
XM_017002028.1:c.6367C=	XP_016857517.1:p.Leu2123=
XR_002957299.1:n.6702C=
XR_949152.2:n.6702C=
NM_001035.3:c.6358C= MANE Select	NP_001026.2:p.Leu2120=