Canonical Allele Identifier: CA2487439323

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237678161T= , CM000663.2:g.237678161T=	GRCh38
NC_000001.10:g.237841461T= , CM000663.1:g.237841461T=	GRCh37
NC_000001.9:g.235908084T=	NCBI36
NG_008799.2:g.640760T=
NG_008799.3:g.640978T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.8831-2295T=	ENSP00000499659.2:n.8831-2295T=
ENST00000659194.3:c.8895+49T=	ENSP00000499653.3:n.8895+49T=
ENST00000660292.2:c.8895+49T=	ENSP00000499787.2:n.8895+49T=
ENST00000659194.2:c.1084+49T=
ENST00000366574.7:c.8895+49T= MANE Select	ENSP00000355533.2:n.8895+49T=
ENST00000659194.1:c.1084+49T=
ENST00000360064.7:c.8847+49T=	ENSP00000353174.7:n.8847+49T=
ENST00000366574.6:c.8895+49T=	ENSP00000355533.2:n.8895+49T=
ENST00000609119.1:n.84-2295T=
NM_001035.2:c.8895+49T=	NP_001026.2:n.8895+49T=
XM_006711802.2:c.8925+49T=	XP_006711865.1:n.8925+49T=
XM_006711803.2:c.8922+49T=	XP_006711866.1:n.8922+49T=
XM_006711804.2:c.8925+49T=	XP_006711867.1:n.8925+49T=
XM_006711805.2:c.8895+49T=	XP_006711868.1:n.8895+49T=
XM_006711806.2:c.8925+49T=	XP_006711869.1:n.8925+49T=
XM_006711807.2:c.8925+49T=	XP_006711870.1:n.8925+49T=
XM_006711808.2:c.8860+3315T=	XP_006711871.1:n.8860+3315T=
XM_006711810.2:c.8892+49T=	XP_006711873.1:n.8892+49T=
XR_949152.1:n.9206+49T=
XM_006711802.3:c.8925+49T=	XP_006711865.1:n.8925+49T=
XM_006711803.3:c.8922+49T=	XP_006711866.1:n.8922+49T=
XM_006711804.3:c.8925+49T=	XP_006711867.1:n.8925+49T=
XM_006711805.3:c.8895+49T=	XP_006711868.1:n.8895+49T=
XM_006711806.3:c.8925+49T=	XP_006711869.1:n.8925+49T=
XM_006711807.3:c.8925+49T=	XP_006711870.1:n.8925+49T=
XM_006711808.3:c.8860+3315T=	XP_006711871.1:n.8860+3315T=
XM_006711810.3:c.8892+49T=	XP_006711873.1:n.8892+49T=
XM_017002028.1:c.8904+49T=	XP_016857517.1:n.8904+49T=
XR_949152.2:n.9239+49T=
NM_001035.3:c.8895+49T= MANE Select	NP_001026.2:n.8895+49T=