Canonical Allele Identifier: CA2487482439

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784243C= , CM000663.2:g.237784243C=	GRCh38
NC_000001.10:g.237947543C= , CM000663.1:g.237947543C=	GRCh37
NC_000001.9:g.236014166C=	NCBI36
NG_008799.2:g.746842C=
NG_008799.3:g.747060C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3623C=	ENSP00000499659.2:n.*3623C=
ENST00000659194.3:c.12519C=	ENSP00000499653.3:p.Val4173=
ENST00000660292.2:c.12552C=	ENSP00000499787.2:p.Val4184=
ENST00000659194.2:c.4708C=
ENST00000366574.7:c.12531C= MANE Select	ENSP00000355533.2:p.Val4177=
ENST00000659194.1:c.4708C=
ENST00000660292.1:c.2584C=
ENST00000360064.7:c.12483C=	ENSP00000353174.7:p.Val4161=
ENST00000366574.6:c.12531C=	ENSP00000355533.2:p.Val4177=
ENST00000609119.1:n.3726C=
NM_001035.2:c.12531C=	NP_001026.2:p.Val4177=
XM_006711802.2:c.12585C=	XP_006711865.1:p.Val4195=
XM_006711803.2:c.12582C=	XP_006711866.1:p.Val4194=
XM_006711804.2:c.12561C=	XP_006711867.1:p.Val4187=
XM_006711805.2:c.12555C=	XP_006711868.1:p.Val4185=
XM_006711806.2:c.12549C=	XP_006711869.1:p.Val4183=
XM_006711807.2:c.12525C=	XP_006711870.1:p.Val4175=
XM_006711808.2:c.12348C=	XP_006711871.1:p.Val4116=
XM_006711810.2:c.12492C=	XP_006711873.1:p.Val4164=
XM_006711802.3:c.12585C=	XP_006711865.1:p.Val4195=
XM_006711803.3:c.12582C=	XP_006711866.1:p.Val4194=
XM_006711804.3:c.12561C=	XP_006711867.1:p.Val4187=
XM_006711805.3:c.12555C=	XP_006711868.1:p.Val4185=
XM_006711806.3:c.12549C=	XP_006711869.1:p.Val4183=
XM_006711807.3:c.12525C=	XP_006711870.1:p.Val4175=
XM_006711808.3:c.12348C=	XP_006711871.1:p.Val4116=
XM_006711810.3:c.12492C=	XP_006711873.1:p.Val4164=
XM_017002028.1:c.12564C=	XP_016857517.1:p.Val4188=
NM_001035.3:c.12531C= MANE Select	NP_001026.2:p.Val4177=