Canonical Allele Identifier: CA085315

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784949C>A , CM000663.2:g.237784949C>A	GRCh38
NC_000001.10:g.237948249C>A , CM000663.1:g.237948249C>A	GRCh37
NC_000001.9:g.236014872C>A	NCBI36
NG_008799.2:g.747548C>A
NG_008799.3:g.747766C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*4329C>A	ENSP00000499659.2:n.*4329C>A
ENST00000659194.3:c.13225C>A	ENSP00000499653.3:p.Pro4409Thr
ENST00000660292.2:c.13258C>A	ENSP00000499787.2:p.Pro4420Thr
ENST00000659194.2:c.5414C>A
ENST00000366574.7:c.13237C>A MANE Select	ENSP00000355533.2:p.Pro4413Thr
ENST00000659194.1:c.5414C>A
ENST00000660292.1:c.3290C>A
ENST00000360064.7:c.13189C>A	ENSP00000353174.7:p.Pro4397Thr
ENST00000366574.6:c.13237C>A	ENSP00000355533.2:p.Pro4413Thr
ENST00000609119.1:n.4432C>A
NM_001035.2:c.13237C>A	NP_001026.2:p.Pro4413Thr
XM_006711802.2:c.13291C>A	XP_006711865.1:p.Pro4431Thr
XM_006711803.2:c.13288C>A	XP_006711866.1:p.Pro4430Thr
XM_006711804.2:c.13267C>A	XP_006711867.1:p.Pro4423Thr
XM_006711805.2:c.13261C>A	XP_006711868.1:p.Pro4421Thr
XM_006711806.2:c.13255C>A	XP_006711869.1:p.Pro4419Thr
XM_006711807.2:c.13231C>A	XP_006711870.1:p.Pro4411Thr
XM_006711808.2:c.13054C>A	XP_006711871.1:p.Pro4352Thr
XM_006711810.2:c.13198C>A	XP_006711873.1:p.Pro4400Thr
XM_006711802.3:c.13291C>A	XP_006711865.1:p.Pro4431Thr
XM_006711803.3:c.13288C>A	XP_006711866.1:p.Pro4430Thr
XM_006711804.3:c.13267C>A	XP_006711867.1:p.Pro4423Thr
XM_006711805.3:c.13261C>A	XP_006711868.1:p.Pro4421Thr
XM_006711806.3:c.13255C>A	XP_006711869.1:p.Pro4419Thr
XM_006711807.3:c.13231C>A	XP_006711870.1:p.Pro4411Thr
XM_006711808.3:c.13054C>A	XP_006711871.1:p.Pro4352Thr
XM_006711810.3:c.13198C>A	XP_006711873.1:p.Pro4400Thr
XM_017002028.1:c.13270C>A	XP_016857517.1:p.Pro4424Thr
NM_001035.3:c.13237C>A MANE Select	NP_001026.2:p.Pro4413Thr