Canonical Allele Identifier: CA008359

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237830600C>T , CM000663.2:g.237830600C>T	GRCh38
NC_000001.10:g.237993900C>T , CM000663.1:g.237993900C>T	GRCh37
NC_000001.9:g.236060523C>T	NCBI36
NG_008799.2:g.793199C>T
NG_008799.3:g.793417C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5818C>T	ENSP00000499659.2:n.*5818C>T
ENST00000659194.3:c.14708C>T	ENSP00000499653.3:p.Thr4903Ile
ENST00000660292.2:c.14747C>T	ENSP00000499787.2:p.Thr4916Ile
ENST00000659194.2:c.6897C>T
ENST00000366574.7:c.14726C>T MANE Select	ENSP00000355533.2:p.Thr4909Ile
ENST00000360064.7:c.14675C>T	ENSP00000353174.7:p.Thr4892Ile
ENST00000366574.6:c.14726C>T	ENSP00000355533.2:p.Thr4909Ile
ENST00000462585.1:n.569C>T
ENST00000608590.5:n.1167-914C>T
NM_001035.2:c.14726C>T	NP_001026.2:p.Thr4909Ile
XM_006711802.2:c.14780C>T	XP_006711865.1:p.Thr4927Ile
XM_006711803.2:c.14777C>T	XP_006711866.1:p.Thr4926Ile
XM_006711804.2:c.14756C>T	XP_006711867.1:p.Thr4919Ile
XM_006711805.2:c.14750C>T	XP_006711868.1:p.Thr4917Ile
XM_006711806.2:c.14744C>T	XP_006711869.1:p.Thr4915Ile
XM_006711807.2:c.14720C>T	XP_006711870.1:p.Thr4907Ile
XM_006711808.2:c.14543C>T	XP_006711871.1:p.Thr4848Ile
XM_006711810.2:c.14687C>T	XP_006711873.1:p.Thr4896Ile
XM_006711802.3:c.14780C>T	XP_006711865.1:p.Thr4927Ile
XM_006711803.3:c.14777C>T	XP_006711866.1:p.Thr4926Ile
XM_006711804.3:c.14756C>T	XP_006711867.1:p.Thr4919Ile
XM_006711805.3:c.14750C>T	XP_006711868.1:p.Thr4917Ile
XM_006711806.3:c.14744C>T	XP_006711869.1:p.Thr4915Ile
XM_006711807.3:c.14720C>T	XP_006711870.1:p.Thr4907Ile
XM_006711808.3:c.14543C>T	XP_006711871.1:p.Thr4848Ile
XM_006711810.3:c.14687C>T	XP_006711873.1:p.Thr4896Ile
XM_017002028.1:c.14759C>T	XP_016857517.1:p.Thr4920Ile
NM_001035.3:c.14726C>T MANE Select	NP_001026.2:p.Thr4909Ile