Canonical Allele Identifier: CA345413589

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947557A>T (hg19) ; chr1:g.237784257A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3637A>T	ENSP00000499659.2:n.*3637A>T
ENST00000659194.3:c.12533A>T	ENSP00000499653.3:p.Glu4178Val
ENST00000660292.2:c.12566A>T	ENSP00000499787.2:p.Glu4189Val
ENST00000659194.2:c.4722A>T
ENST00000366574.7:c.12545A>T MANE Select	ENSP00000355533.2:p.Glu4182Val
ENST00000659194.1:c.4722A>T
ENST00000660292.1:c.2598A>T
ENST00000360064.7:c.12497A>T	ENSP00000353174.7:p.Glu4166Val
ENST00000366574.6:c.12545A>T	ENSP00000355533.2:p.Glu4182Val
ENST00000609119.1:n.3740A>T
NM_001035.2:c.12545A>T	NP_001026.2:p.Glu4182Val
XM_006711802.2:c.12599A>T	XP_006711865.1:p.Glu4200Val
XM_006711803.2:c.12596A>T	XP_006711866.1:p.Glu4199Val
XM_006711804.2:c.12575A>T	XP_006711867.1:p.Glu4192Val
XM_006711805.2:c.12569A>T	XP_006711868.1:p.Glu4190Val
XM_006711806.2:c.12563A>T	XP_006711869.1:p.Glu4188Val
XM_006711807.2:c.12539A>T	XP_006711870.1:p.Glu4180Val
XM_006711808.2:c.12362A>T	XP_006711871.1:p.Glu4121Val
XM_006711810.2:c.12506A>T	XP_006711873.1:p.Glu4169Val
XM_006711802.3:c.12599A>T	XP_006711865.1:p.Glu4200Val
XM_006711803.3:c.12596A>T	XP_006711866.1:p.Glu4199Val
XM_006711804.3:c.12575A>T	XP_006711867.1:p.Glu4192Val
XM_006711805.3:c.12569A>T	XP_006711868.1:p.Glu4190Val
XM_006711806.3:c.12563A>T	XP_006711869.1:p.Glu4188Val
XM_006711807.3:c.12539A>T	XP_006711870.1:p.Glu4180Val
XM_006711808.3:c.12362A>T	XP_006711871.1:p.Glu4121Val
XM_006711810.3:c.12506A>T	XP_006711873.1:p.Glu4169Val
XM_017002028.1:c.12578A>T	XP_016857517.1:p.Glu4193Val
NM_001035.3:c.12545A>T MANE Select	NP_001026.2:p.Glu4182Val