Canonical Allele Identifier: CA085245

Gene: RYR2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784549G>A , CM000663.2:g.237784549G>A	GRCh38
NC_000001.10:g.237947849G>A , CM000663.1:g.237947849G>A	GRCh37
NC_000001.9:g.236014472G>A	NCBI36
NG_008799.2:g.747148G>A
NG_008799.3:g.747366G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3929G>A	ENSP00000499659.2:n.*3929G>A
ENST00000659194.3:c.12825G>A	ENSP00000499653.3:p.Met4275Ile
ENST00000660292.2:c.12858G>A	ENSP00000499787.2:p.Met4286Ile
ENST00000659194.2:c.5014G>A
ENST00000366574.7:c.12837G>A MANE Select	ENSP00000355533.2:p.Met4279Ile
ENST00000659194.1:c.5014G>A
ENST00000660292.1:c.2890G>A
ENST00000360064.7:c.12789G>A	ENSP00000353174.7:p.Met4263Ile
ENST00000366574.6:c.12837G>A	ENSP00000355533.2:p.Met4279Ile
ENST00000609119.1:n.4032G>A
NM_001035.2:c.12837G>A	NP_001026.2:p.Met4279Ile
XM_006711802.2:c.12891G>A	XP_006711865.1:p.Met4297Ile
XM_006711803.2:c.12888G>A	XP_006711866.1:p.Met4296Ile
XM_006711804.2:c.12867G>A	XP_006711867.1:p.Met4289Ile
XM_006711805.2:c.12861G>A	XP_006711868.1:p.Met4287Ile
XM_006711806.2:c.12855G>A	XP_006711869.1:p.Met4285Ile
XM_006711807.2:c.12831G>A	XP_006711870.1:p.Met4277Ile
XM_006711808.2:c.12654G>A	XP_006711871.1:p.Met4218Ile
XM_006711810.2:c.12798G>A	XP_006711873.1:p.Met4266Ile
XM_006711802.3:c.12891G>A	XP_006711865.1:p.Met4297Ile
XM_006711803.3:c.12888G>A	XP_006711866.1:p.Met4296Ile
XM_006711804.3:c.12867G>A	XP_006711867.1:p.Met4289Ile
XM_006711805.3:c.12861G>A	XP_006711868.1:p.Met4287Ile
XM_006711806.3:c.12855G>A	XP_006711869.1:p.Met4285Ile
XM_006711807.3:c.12831G>A	XP_006711870.1:p.Met4277Ile
XM_006711808.3:c.12654G>A	XP_006711871.1:p.Met4218Ile
XM_006711810.3:c.12798G>A	XP_006711873.1:p.Met4266Ile
XM_017002028.1:c.12870G>A	XP_016857517.1:p.Met4290Ile
NM_001035.3:c.12837G>A MANE Select	NP_001026.2:p.Met4279Ile