Canonical Allele Identifier: CA345409920

Gene: RYR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237831534T>C , CM000663.2:g.237831534T>C	GRCh38
NC_000001.10:g.237994834T>C , CM000663.1:g.237994834T>C	GRCh37
NC_000001.9:g.236061457T>C	NCBI36
NG_008799.2:g.794133T>C
NG_008799.3:g.794351T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001035.3:c.14777T>C MANE Select	NP_001026.2:p.Ile4926Thr
ENST00000366574.7:c.14777T>C MANE Select	ENSP00000355533.2:p.Ile4926Thr
NM_001035.2:c.14777T>C	NP_001026.2:p.Ile4926Thr
ENST00000360064.7:c.14726T>C	ENSP00000353174.7:p.Ile4909Thr
ENST00000366574.6:c.14777T>C	ENSP00000355533.2:p.Ile4926Thr
ENST00000462585.1:n.620T>C
ENST00000608590.5:n.1187T>C
ENST00000609119.2:c.*5869T>C	ENSP00000499659.2:n.*5869T>C
ENST00000659194.2:c.6948T>C
ENST00000659194.3:c.14759T>C	ENSP00000499653.3:p.Ile4920Thr
ENST00000660292.2:c.14798T>C	ENSP00000499787.2:p.Ile4933Thr
XM_006711802.2:c.14831T>C	XP_006711865.1:p.Ile4944Thr
XM_006711802.3:c.14831T>C	XP_006711865.1:p.Ile4944Thr
XM_006711803.2:c.14828T>C	XP_006711866.1:p.Ile4943Thr
XM_006711803.3:c.14828T>C	XP_006711866.1:p.Ile4943Thr
XM_006711804.2:c.14807T>C	XP_006711867.1:p.Ile4936Thr
XM_006711804.3:c.14807T>C	XP_006711867.1:p.Ile4936Thr
XM_006711805.2:c.14801T>C	XP_006711868.1:p.Ile4934Thr
XM_006711805.3:c.14801T>C	XP_006711868.1:p.Ile4934Thr
XM_006711806.2:c.14795T>C	XP_006711869.1:p.Ile4932Thr
XM_006711806.3:c.14795T>C	XP_006711869.1:p.Ile4932Thr
XM_006711807.2:c.14771T>C	XP_006711870.1:p.Ile4924Thr
XM_006711807.3:c.14771T>C	XP_006711870.1:p.Ile4924Thr
XM_006711808.2:c.14594T>C	XP_006711871.1:p.Ile4865Thr
XM_006711808.3:c.14594T>C	XP_006711871.1:p.Ile4865Thr
XM_006711810.2:c.14738T>C	XP_006711873.1:p.Ile4913Thr
XM_006711810.3:c.14738T>C	XP_006711873.1:p.Ile4913Thr
XM_017002028.1:c.14810T>C	XP_016857517.1:p.Ile4937Thr