Canonical Allele Identifier: CA007588

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784257A>C , CM000663.2:g.237784257A>C	GRCh38
NC_000001.10:g.237947557A>C , CM000663.1:g.237947557A>C	GRCh37
NC_000001.9:g.236014180A>C	NCBI36
NG_008799.2:g.746856A>C
NG_008799.3:g.747074A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3637A>C	ENSP00000499659.2:n.*3637A>C
ENST00000659194.3:c.12533A>C	ENSP00000499653.3:p.Glu4178Ala
ENST00000660292.2:c.12566A>C	ENSP00000499787.2:p.Glu4189Ala
ENST00000659194.2:c.4722A>C
ENST00000366574.7:c.12545A>C MANE Select	ENSP00000355533.2:p.Glu4182Ala
ENST00000659194.1:c.4722A>C
ENST00000660292.1:c.2598A>C
ENST00000360064.7:c.12497A>C	ENSP00000353174.7:p.Glu4166Ala
ENST00000366574.6:c.12545A>C	ENSP00000355533.2:p.Glu4182Ala
ENST00000609119.1:n.3740A>C
NM_001035.2:c.12545A>C	NP_001026.2:p.Glu4182Ala
XM_006711802.2:c.12599A>C	XP_006711865.1:p.Glu4200Ala
XM_006711803.2:c.12596A>C	XP_006711866.1:p.Glu4199Ala
XM_006711804.2:c.12575A>C	XP_006711867.1:p.Glu4192Ala
XM_006711805.2:c.12569A>C	XP_006711868.1:p.Glu4190Ala
XM_006711806.2:c.12563A>C	XP_006711869.1:p.Glu4188Ala
XM_006711807.2:c.12539A>C	XP_006711870.1:p.Glu4180Ala
XM_006711808.2:c.12362A>C	XP_006711871.1:p.Glu4121Ala
XM_006711810.2:c.12506A>C	XP_006711873.1:p.Glu4169Ala
XM_006711802.3:c.12599A>C	XP_006711865.1:p.Glu4200Ala
XM_006711803.3:c.12596A>C	XP_006711866.1:p.Glu4199Ala
XM_006711804.3:c.12575A>C	XP_006711867.1:p.Glu4192Ala
XM_006711805.3:c.12569A>C	XP_006711868.1:p.Glu4190Ala
XM_006711806.3:c.12563A>C	XP_006711869.1:p.Glu4188Ala
XM_006711807.3:c.12539A>C	XP_006711870.1:p.Glu4180Ala
XM_006711808.3:c.12362A>C	XP_006711871.1:p.Glu4121Ala
XM_006711810.3:c.12506A>C	XP_006711873.1:p.Glu4169Ala
XM_017002028.1:c.12578A>C	XP_016857517.1:p.Glu4193Ala
NM_001035.3:c.12545A>C MANE Select	NP_001026.2:p.Glu4182Ala