Canonical Allele Identifier: CA2487418025

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237628059A= , CM000663.2:g.237628059A=	GRCh38
NC_000001.10:g.237791359A= , CM000663.1:g.237791359A=	GRCh37
NC_000001.9:g.235857982A=	NCBI36
NG_008799.2:g.590658A=
NG_008799.3:g.590876A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.6419A=	ENSP00000499659.2:p.Lys2140=
ENST00000659194.3:c.6419A=	ENSP00000499653.3:p.Lys2140=
ENST00000660292.2:c.6419A=	ENSP00000499787.2:p.Lys2140=
ENST00000366574.7:c.6419A= MANE Select	ENSP00000355533.2:p.Lys2140=
ENST00000360064.7:c.6371A=	ENSP00000353174.7:p.Lys2124=
ENST00000366574.6:c.6419A=	ENSP00000355533.2:p.Lys2140=
NM_001035.2:c.6419A=	NP_001026.2:p.Lys2140=
XM_006711802.2:c.6449A=	XP_006711865.1:p.Lys2150=
XM_006711803.2:c.6446A=	XP_006711866.1:p.Lys2149=
XM_006711804.2:c.6449A=	XP_006711867.1:p.Lys2150=
XM_006711805.2:c.6419A=	XP_006711868.1:p.Lys2140=
XM_006711806.2:c.6449A=	XP_006711869.1:p.Lys2150=
XM_006711807.2:c.6449A=	XP_006711870.1:p.Lys2150=
XM_006711808.2:c.6449A=	XP_006711871.1:p.Lys2150=
XM_006711809.2:c.6449A=	XP_006711872.1:p.Lys2150=
XM_006711810.2:c.6416A=	XP_006711873.1:p.Lys2139=
XR_949152.1:n.6730A=
XM_006711802.3:c.6449A=	XP_006711865.1:p.Lys2150=
XM_006711803.3:c.6446A=	XP_006711866.1:p.Lys2149=
XM_006711804.3:c.6449A=	XP_006711867.1:p.Lys2150=
XM_006711805.3:c.6419A=	XP_006711868.1:p.Lys2140=
XM_006711806.3:c.6449A=	XP_006711869.1:p.Lys2150=
XM_006711807.3:c.6449A=	XP_006711870.1:p.Lys2150=
XM_006711808.3:c.6449A=	XP_006711871.1:p.Lys2150=
XM_006711810.3:c.6416A=	XP_006711873.1:p.Lys2139=
XM_017002028.1:c.6428A=	XP_016857517.1:p.Lys2143=
XR_002957299.1:n.6763A=
XR_949152.2:n.6763A=
NM_001035.3:c.6419A= MANE Select	NP_001026.2:p.Lys2140=