Canonical Allele Identifier: CA010733

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237649906G>A , CM000663.2:g.237649906G>A	GRCh38
NC_000001.10:g.237813206G>A , CM000663.1:g.237813206G>A	GRCh37
NC_000001.9:g.235879829G>A	NCBI36
NG_008799.2:g.612505G>A
NG_008799.3:g.612723G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.7542G>A	ENSP00000499659.2:p.Leu2514=
ENST00000659194.3:c.7542G>A	ENSP00000499653.3:p.Leu2514=
ENST00000660292.2:c.7542G>A	ENSP00000499787.2:p.Leu2514=
ENST00000366574.7:c.7542G>A MANE Select	ENSP00000355533.2:p.Leu2514=
ENST00000360064.7:c.7494G>A	ENSP00000353174.7:p.Leu2498=
ENST00000366574.6:c.7542G>A	ENSP00000355533.2:p.Leu2514=
NM_001035.2:c.7542G>A	NP_001026.2:p.Leu2514=
XM_006711802.2:c.7572G>A	XP_006711865.1:p.Leu2524=
XM_006711803.2:c.7569G>A	XP_006711866.1:p.Leu2523=
XM_006711804.2:c.7572G>A	XP_006711867.1:p.Leu2524=
XM_006711805.2:c.7542G>A	XP_006711868.1:p.Leu2514=
XM_006711806.2:c.7572G>A	XP_006711869.1:p.Leu2524=
XM_006711807.2:c.7572G>A	XP_006711870.1:p.Leu2524=
XM_006711808.2:c.7572G>A	XP_006711871.1:p.Leu2524=
XM_006711809.2:c.7572G>A	XP_006711872.1:p.Leu2524=
XM_006711810.2:c.7539G>A	XP_006711873.1:p.Leu2513=
XR_949152.1:n.7853G>A
XM_006711802.3:c.7572G>A	XP_006711865.1:p.Leu2524=
XM_006711803.3:c.7569G>A	XP_006711866.1:p.Leu2523=
XM_006711804.3:c.7572G>A	XP_006711867.1:p.Leu2524=
XM_006711805.3:c.7542G>A	XP_006711868.1:p.Leu2514=
XM_006711806.3:c.7572G>A	XP_006711869.1:p.Leu2524=
XM_006711807.3:c.7572G>A	XP_006711870.1:p.Leu2524=
XM_006711808.3:c.7572G>A	XP_006711871.1:p.Leu2524=
XM_006711810.3:c.7539G>A	XP_006711873.1:p.Leu2513=
XM_017002028.1:c.7551G>A	XP_016857517.1:p.Leu2517=
XR_002957299.1:n.7886G>A
XR_949152.2:n.7886G>A
NM_001035.3:c.7542G>A MANE Select	NP_001026.2:p.Leu2514=