Canonical Allele Identifier: CA008220

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808913G>A , CM000663.2:g.237808913G>A	GRCh38
NC_000001.10:g.237972213G>A , CM000663.1:g.237972213G>A	GRCh37
NC_000001.9:g.236038836G>A	NCBI36
NG_008799.2:g.771512G>A
NG_008799.3:g.771730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5403G>A	ENSP00000499659.2:n.*5403G>A
ENST00000659194.3:c.14293G>A	ENSP00000499653.3:p.Val4765Ile
ENST00000660292.2:c.14332G>A	ENSP00000499787.2:p.Val4778Ile
ENST00000659194.2:c.6482G>A
ENST00000366574.7:c.14311G>A MANE Select	ENSP00000355533.2:p.Val4771Ile
ENST00000360064.7:c.14260G>A	ENSP00000353174.7:p.Val4754Ile
ENST00000366574.6:c.14311G>A	ENSP00000355533.2:p.Val4771Ile
ENST00000608590.5:n.822G>A
NM_001035.2:c.14311G>A	NP_001026.2:p.Val4771Ile
XM_006711802.2:c.14365G>A	XP_006711865.1:p.Val4789Ile
XM_006711803.2:c.14362G>A	XP_006711866.1:p.Val4788Ile
XM_006711804.2:c.14341G>A	XP_006711867.1:p.Val4781Ile
XM_006711805.2:c.14335G>A	XP_006711868.1:p.Val4779Ile
XM_006711806.2:c.14329G>A	XP_006711869.1:p.Val4777Ile
XM_006711807.2:c.14305G>A	XP_006711870.1:p.Val4769Ile
XM_006711808.2:c.14128G>A	XP_006711871.1:p.Val4710Ile
XM_006711810.2:c.14272G>A	XP_006711873.1:p.Val4758Ile
XM_006711802.3:c.14365G>A	XP_006711865.1:p.Val4789Ile
XM_006711803.3:c.14362G>A	XP_006711866.1:p.Val4788Ile
XM_006711804.3:c.14341G>A	XP_006711867.1:p.Val4781Ile
XM_006711805.3:c.14335G>A	XP_006711868.1:p.Val4779Ile
XM_006711806.3:c.14329G>A	XP_006711869.1:p.Val4777Ile
XM_006711807.3:c.14305G>A	XP_006711870.1:p.Val4769Ile
XM_006711808.3:c.14128G>A	XP_006711871.1:p.Val4710Ile
XM_006711810.3:c.14272G>A	XP_006711873.1:p.Val4758Ile
XM_017002028.1:c.14344G>A	XP_016857517.1:p.Val4782Ile
NM_001035.3:c.14311G>A MANE Select	NP_001026.2:p.Val4771Ile