Canonical Allele Identifier: CA085335

Gene: RYR2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237786034C>T , CM000663.2:g.237786034C>T	GRCh38
NC_000001.10:g.237949334C>T , CM000663.1:g.237949334C>T	GRCh37
NC_000001.9:g.236015957C>T	NCBI36
NG_008799.2:g.748633C>T
NG_008799.3:g.748851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4418C>T	ENSP00000499659.2:n.*4418C>T
ENST00000659194.3:c.13308C>T	ENSP00000499653.3:p.Ala4436=
ENST00000660292.2:c.13347C>T	ENSP00000499787.2:p.Ala4449=
ENST00000659194.2:c.5497C>T
ENST00000366574.7:c.13326C>T MANE Select	ENSP00000355533.2:p.Ala4442=
ENST00000660292.1:c.3379C>T
ENST00000360064.7:c.13243+1028C>T	ENSP00000353174.7:n.13243+1028C>T
ENST00000366574.6:c.13326C>T	ENSP00000355533.2:p.Ala4442=
ENST00000609119.1:n.4521C>T
NM_001035.2:c.13326C>T	NP_001026.2:p.Ala4442=
XM_006711802.2:c.13380C>T	XP_006711865.1:p.Ala4460=
XM_006711803.2:c.13377C>T	XP_006711866.1:p.Ala4459=
XM_006711804.2:c.13356C>T	XP_006711867.1:p.Ala4452=
XM_006711805.2:c.13350C>T	XP_006711868.1:p.Ala4450=
XM_006711806.2:c.13344C>T	XP_006711869.1:p.Ala4448=
XM_006711807.2:c.13320C>T	XP_006711870.1:p.Ala4440=
XM_006711808.2:c.13143C>T	XP_006711871.1:p.Ala4381=
XM_006711810.2:c.13287C>T	XP_006711873.1:p.Ala4429=
XM_006711802.3:c.13380C>T	XP_006711865.1:p.Ala4460=
XM_006711803.3:c.13377C>T	XP_006711866.1:p.Ala4459=
XM_006711804.3:c.13356C>T	XP_006711867.1:p.Ala4452=
XM_006711805.3:c.13350C>T	XP_006711868.1:p.Ala4450=
XM_006711806.3:c.13344C>T	XP_006711869.1:p.Ala4448=
XM_006711807.3:c.13320C>T	XP_006711870.1:p.Ala4440=
XM_006711808.3:c.13143C>T	XP_006711871.1:p.Ala4381=
XM_006711810.3:c.13287C>T	XP_006711873.1:p.Ala4429=
XM_017002028.1:c.13359C>T	XP_016857517.1:p.Ala4453=
NM_001035.3:c.13326C>T MANE Select	NP_001026.2:p.Ala4442=