Canonical Allele Identifier: CA424032138

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947321A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784021A>C , CM000663.2:g.237784021A>C	GRCh38
NC_000001.10:g.237947321A>C , CM000663.1:g.237947321A>C	GRCh37
NC_000001.9:g.236013944A>C	NCBI36
NG_008799.2:g.746620A>C
NG_008799.3:g.746838A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3401A>C	ENSP00000499659.2:n.*3401A>C
ENST00000659194.3:c.12297A>C	ENSP00000499653.3:p.Thr4099=
ENST00000660292.2:c.12330A>C	ENSP00000499787.2:p.Thr4110=
ENST00000659194.2:c.4486A>C
ENST00000366574.7:c.12309A>C MANE Select	ENSP00000355533.2:p.Thr4103=
ENST00000659194.1:c.4486A>C
ENST00000660292.1:c.2362A>C
ENST00000360064.7:c.12261A>C	ENSP00000353174.7:p.Thr4087=
ENST00000366574.6:c.12309A>C	ENSP00000355533.2:p.Thr4103=
ENST00000609119.1:n.3504A>C
NM_001035.2:c.12309A>C	NP_001026.2:p.Thr4103=
XM_006711802.2:c.12363A>C	XP_006711865.1:p.Thr4121=
XM_006711803.2:c.12360A>C	XP_006711866.1:p.Thr4120=
XM_006711804.2:c.12339A>C	XP_006711867.1:p.Thr4113=
XM_006711805.2:c.12333A>C	XP_006711868.1:p.Thr4111=
XM_006711806.2:c.12327A>C	XP_006711869.1:p.Thr4109=
XM_006711807.2:c.12303A>C	XP_006711870.1:p.Thr4101=
XM_006711808.2:c.12126A>C	XP_006711871.1:p.Thr4042=
XM_006711810.2:c.12270A>C	XP_006711873.1:p.Thr4090=
XM_006711802.3:c.12363A>C	XP_006711865.1:p.Thr4121=
XM_006711803.3:c.12360A>C	XP_006711866.1:p.Thr4120=
XM_006711804.3:c.12339A>C	XP_006711867.1:p.Thr4113=
XM_006711805.3:c.12333A>C	XP_006711868.1:p.Thr4111=
XM_006711806.3:c.12327A>C	XP_006711869.1:p.Thr4109=
XM_006711807.3:c.12303A>C	XP_006711870.1:p.Thr4101=
XM_006711808.3:c.12126A>C	XP_006711871.1:p.Thr4042=
XM_006711810.3:c.12270A>C	XP_006711873.1:p.Thr4090=
XM_017002028.1:c.12342A>C	XP_016857517.1:p.Thr4114=
NM_001035.3:c.12309A>C MANE Select	NP_001026.2:p.Thr4103=