Canonical Allele Identifier: CA2487482399

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784139A= , CM000663.2:g.237784139A=	GRCh38
NC_000001.10:g.237947439A= , CM000663.1:g.237947439A=	GRCh37
NC_000001.9:g.236014062A=	NCBI36
NG_008799.2:g.746738A=
NG_008799.3:g.746956A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3519A=	ENSP00000499659.2:n.*3519A=
ENST00000659194.3:c.12415A=	ENSP00000499653.3:p.Lys4139=
ENST00000660292.2:c.12448A=	ENSP00000499787.2:p.Lys4150=
ENST00000659194.2:c.4604A=
ENST00000366574.7:c.12427A= MANE Select	ENSP00000355533.2:p.Lys4143=
ENST00000659194.1:c.4604A=
ENST00000660292.1:c.2480A=
ENST00000360064.7:c.12379A=	ENSP00000353174.7:p.Lys4127=
ENST00000366574.6:c.12427A=	ENSP00000355533.2:p.Lys4143=
ENST00000609119.1:n.3622A=
NM_001035.2:c.12427A=	NP_001026.2:p.Lys4143=
XM_006711802.2:c.12481A=	XP_006711865.1:p.Lys4161=
XM_006711803.2:c.12478A=	XP_006711866.1:p.Lys4160=
XM_006711804.2:c.12457A=	XP_006711867.1:p.Lys4153=
XM_006711805.2:c.12451A=	XP_006711868.1:p.Lys4151=
XM_006711806.2:c.12445A=	XP_006711869.1:p.Lys4149=
XM_006711807.2:c.12421A=	XP_006711870.1:p.Lys4141=
XM_006711808.2:c.12244A=	XP_006711871.1:p.Lys4082=
XM_006711810.2:c.12388A=	XP_006711873.1:p.Lys4130=
XM_006711802.3:c.12481A=	XP_006711865.1:p.Lys4161=
XM_006711803.3:c.12478A=	XP_006711866.1:p.Lys4160=
XM_006711804.3:c.12457A=	XP_006711867.1:p.Lys4153=
XM_006711805.3:c.12451A=	XP_006711868.1:p.Lys4151=
XM_006711806.3:c.12445A=	XP_006711869.1:p.Lys4149=
XM_006711807.3:c.12421A=	XP_006711870.1:p.Lys4141=
XM_006711808.3:c.12244A=	XP_006711871.1:p.Lys4082=
XM_006711810.3:c.12388A=	XP_006711873.1:p.Lys4130=
XM_017002028.1:c.12460A=	XP_016857517.1:p.Lys4154=
NM_001035.3:c.12427A= MANE Select	NP_001026.2:p.Lys4143=