Canonical Allele Identifier: CA2487481315

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237781598A= , CM000663.2:g.237781598A=	GRCh38
NC_000001.10:g.237944898A= , CM000663.1:g.237944898A=	GRCh37
NC_000001.9:g.236011521A=	NCBI36
NG_008799.2:g.744197A=
NG_008799.3:g.744415A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3006A=	ENSP00000499659.2:n.*3006A=
ENST00000659194.3:c.11902A=	ENSP00000499653.3:p.Met3968=
ENST00000660292.2:c.11935A=	ENSP00000499787.2:p.Met3979=
ENST00000659194.2:c.4091A=
ENST00000366574.7:c.11914A= MANE Select	ENSP00000355533.2:p.Met3972=
ENST00000659194.1:c.4091A=
ENST00000660292.1:c.1967A=
ENST00000360064.7:c.11866A=	ENSP00000353174.7:p.Met3956=
ENST00000366574.6:c.11914A=	ENSP00000355533.2:p.Met3972=
ENST00000609119.1:n.3109A=
NM_001035.2:c.11914A=	NP_001026.2:p.Met3972=
XM_006711802.2:c.11968A=	XP_006711865.1:p.Met3990=
XM_006711803.2:c.11965A=	XP_006711866.1:p.Met3989=
XM_006711804.2:c.11944A=	XP_006711867.1:p.Met3982=
XM_006711805.2:c.11938A=	XP_006711868.1:p.Met3980=
XM_006711806.2:c.11932A=	XP_006711869.1:p.Met3978=
XM_006711807.2:c.11908A=	XP_006711870.1:p.Met3970=
XM_006711808.2:c.11731A=	XP_006711871.1:p.Met3911=
XM_006711810.2:c.11875A=	XP_006711873.1:p.Met3959=
XM_006711802.3:c.11968A=	XP_006711865.1:p.Met3990=
XM_006711803.3:c.11965A=	XP_006711866.1:p.Met3989=
XM_006711804.3:c.11944A=	XP_006711867.1:p.Met3982=
XM_006711805.3:c.11938A=	XP_006711868.1:p.Met3980=
XM_006711806.3:c.11932A=	XP_006711869.1:p.Met3978=
XM_006711807.3:c.11908A=	XP_006711870.1:p.Met3970=
XM_006711808.3:c.11731A=	XP_006711871.1:p.Met3911=
XM_006711810.3:c.11875A=	XP_006711873.1:p.Met3959=
XM_017002028.1:c.11947A=	XP_016857517.1:p.Met3983=
NM_001035.3:c.11914A= MANE Select	NP_001026.2:p.Met3972=