Canonical Allele Identifier: CA423820473

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237723259A>G , CM000663.2:g.237723259A>G	GRCh38
NC_000001.10:g.237886559A>G , CM000663.1:g.237886559A>G	GRCh37
NC_000001.9:g.235953182A>G	NCBI36
NG_008799.2:g.685858A>G
NG_008799.3:g.686076A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*1721A>G	ENSP00000499659.2:n.*1721A>G
ENST00000659194.3:c.10686A>G	ENSP00000499653.3:p.Glu3562=
ENST00000660292.2:c.10686A>G	ENSP00000499787.2:p.Glu3562=
ENST00000659194.2:c.2875A>G
ENST00000366574.7:c.10686A>G MANE Select	ENSP00000355533.2:p.Glu3562=
ENST00000659194.1:c.2875A>G
ENST00000660292.1:c.718A>G
ENST00000661330.1:c.493A>G
ENST00000360064.7:c.10638A>G	ENSP00000353174.7:p.Glu3546=
ENST00000366574.6:c.10686A>G	ENSP00000355533.2:p.Glu3562=
ENST00000609119.1:n.1824A>G
ENST00000609253.1:n.49A>G
NM_001035.2:c.10686A>G	NP_001026.2:p.Glu3562=
XM_006711802.2:c.10716A>G	XP_006711865.1:p.Glu3572=
XM_006711803.2:c.10713A>G	XP_006711866.1:p.Glu3571=
XM_006711804.2:c.10716A>G	XP_006711867.1:p.Glu3572=
XM_006711805.2:c.10686A>G	XP_006711868.1:p.Glu3562=
XM_006711806.2:c.10716A>G	XP_006711869.1:p.Glu3572=
XM_006711807.2:c.10716A>G	XP_006711870.1:p.Glu3572=
XM_006711808.2:c.10479A>G	XP_006711871.1:p.Glu3493=
XM_006711810.2:c.10683A>G	XP_006711873.1:p.Glu3561=
XM_006711802.3:c.10716A>G	XP_006711865.1:p.Glu3572=
XM_006711803.3:c.10713A>G	XP_006711866.1:p.Glu3571=
XM_006711804.3:c.10716A>G	XP_006711867.1:p.Glu3572=
XM_006711805.3:c.10686A>G	XP_006711868.1:p.Glu3562=
XM_006711806.3:c.10716A>G	XP_006711869.1:p.Glu3572=
XM_006711807.3:c.10716A>G	XP_006711870.1:p.Glu3572=
XM_006711808.3:c.10479A>G	XP_006711871.1:p.Glu3493=
XM_006711810.3:c.10683A>G	XP_006711873.1:p.Glu3561=
XM_017002028.1:c.10695A>G	XP_016857517.1:p.Glu3565=
NM_001035.3:c.10686A>G MANE Select	NP_001026.2:p.Glu3562=