Canonical Allele Identifier: CA2487451337

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237707071A= , CM000663.2:g.237707071A=	GRCh38
NC_000001.10:g.237870371A= , CM000663.1:g.237870371A=	GRCh37
NC_000001.9:g.235936994A=	NCBI36
NG_008799.2:g.669670A=
NG_008799.3:g.669888A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*738A=	ENSP00000499659.2:n.*738A=
ENST00000659194.3:c.9703A=	ENSP00000499653.3:p.Met3235=
ENST00000660292.2:c.9703A=	ENSP00000499787.2:p.Met3235=
ENST00000659194.2:c.1892A=
ENST00000366574.7:c.9703A= MANE Select	ENSP00000355533.2:p.Met3235=
ENST00000659194.1:c.1892A=
ENST00000360064.7:c.9655A=	ENSP00000353174.7:p.Met3219=
ENST00000366574.6:c.9703A=	ENSP00000355533.2:p.Met3235=
ENST00000609119.1:n.841A=
NM_001035.2:c.9703A=	NP_001026.2:p.Met3235=
XM_006711802.2:c.9733A=	XP_006711865.1:p.Met3245=
XM_006711803.2:c.9730A=	XP_006711866.1:p.Met3244=
XM_006711804.2:c.9733A=	XP_006711867.1:p.Met3245=
XM_006711805.2:c.9703A=	XP_006711868.1:p.Met3235=
XM_006711806.2:c.9733A=	XP_006711869.1:p.Met3245=
XM_006711807.2:c.9733A=	XP_006711870.1:p.Met3245=
XM_006711808.2:c.9496A=	XP_006711871.1:p.Met3166=
XM_006711810.2:c.9700A=	XP_006711873.1:p.Met3234=
XM_006711802.3:c.9733A=	XP_006711865.1:p.Met3245=
XM_006711803.3:c.9730A=	XP_006711866.1:p.Met3244=
XM_006711804.3:c.9733A=	XP_006711867.1:p.Met3245=
XM_006711805.3:c.9703A=	XP_006711868.1:p.Met3235=
XM_006711806.3:c.9733A=	XP_006711869.1:p.Met3245=
XM_006711807.3:c.9733A=	XP_006711870.1:p.Met3245=
XM_006711808.3:c.9496A=	XP_006711871.1:p.Met3166=
XM_006711810.3:c.9700A=	XP_006711873.1:p.Met3234=
XM_017002028.1:c.9712A=	XP_016857517.1:p.Met3238=
NM_001035.3:c.9703A= MANE Select	NP_001026.2:p.Met3235=