Canonical Allele Identifier: CA007704

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784538G>A , CM000663.2:g.237784538G>A	GRCh38
NC_000001.10:g.237947838G>A , CM000663.1:g.237947838G>A	GRCh37
NC_000001.9:g.236014461G>A	NCBI36
NG_008799.2:g.747137G>A
NG_008799.3:g.747355G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3918G>A	ENSP00000499659.2:n.*3918G>A
ENST00000659194.3:c.12814G>A	ENSP00000499653.3:p.Val4272Met
ENST00000660292.2:c.12847G>A	ENSP00000499787.2:p.Val4283Met
ENST00000659194.2:c.5003G>A
ENST00000366574.7:c.12826G>A MANE Select	ENSP00000355533.2:p.Val4276Met
ENST00000659194.1:c.5003G>A
ENST00000660292.1:c.2879G>A
ENST00000360064.7:c.12778G>A	ENSP00000353174.7:p.Val4260Met
ENST00000366574.6:c.12826G>A	ENSP00000355533.2:p.Val4276Met
ENST00000609119.1:n.4021G>A
NM_001035.2:c.12826G>A	NP_001026.2:p.Val4276Met
XM_006711802.2:c.12880G>A	XP_006711865.1:p.Val4294Met
XM_006711803.2:c.12877G>A	XP_006711866.1:p.Val4293Met
XM_006711804.2:c.12856G>A	XP_006711867.1:p.Val4286Met
XM_006711805.2:c.12850G>A	XP_006711868.1:p.Val4284Met
XM_006711806.2:c.12844G>A	XP_006711869.1:p.Val4282Met
XM_006711807.2:c.12820G>A	XP_006711870.1:p.Val4274Met
XM_006711808.2:c.12643G>A	XP_006711871.1:p.Val4215Met
XM_006711810.2:c.12787G>A	XP_006711873.1:p.Val4263Met
XM_006711802.3:c.12880G>A	XP_006711865.1:p.Val4294Met
XM_006711803.3:c.12877G>A	XP_006711866.1:p.Val4293Met
XM_006711804.3:c.12856G>A	XP_006711867.1:p.Val4286Met
XM_006711805.3:c.12850G>A	XP_006711868.1:p.Val4284Met
XM_006711806.3:c.12844G>A	XP_006711869.1:p.Val4282Met
XM_006711807.3:c.12820G>A	XP_006711870.1:p.Val4274Met
XM_006711808.3:c.12643G>A	XP_006711871.1:p.Val4215Met
XM_006711810.3:c.12787G>A	XP_006711873.1:p.Val4263Met
XM_017002028.1:c.12859G>A	XP_016857517.1:p.Val4287Met
NM_001035.3:c.12826G>A MANE Select	NP_001026.2:p.Val4276Met