Canonical Allele Identifier: CA345413452

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947500C>A (hg19) ; chr1:g.237784200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784200C>A , CM000663.2:g.237784200C>A	GRCh38
NC_000001.10:g.237947500C>A , CM000663.1:g.237947500C>A	GRCh37
NC_000001.9:g.236014123C>A	NCBI36
NG_008799.2:g.746799C>A
NG_008799.3:g.747017C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3580C>A	ENSP00000499659.2:n.*3580C>A
ENST00000659194.3:c.12476C>A	ENSP00000499653.3:p.Pro4159His
ENST00000660292.2:c.12509C>A	ENSP00000499787.2:p.Pro4170His
ENST00000659194.2:c.4665C>A
ENST00000366574.7:c.12488C>A MANE Select	ENSP00000355533.2:p.Pro4163His
ENST00000659194.1:c.4665C>A
ENST00000660292.1:c.2541C>A
ENST00000360064.7:c.12440C>A	ENSP00000353174.7:p.Pro4147His
ENST00000366574.6:c.12488C>A	ENSP00000355533.2:p.Pro4163His
ENST00000609119.1:n.3683C>A
NM_001035.2:c.12488C>A	NP_001026.2:p.Pro4163His
XM_006711802.2:c.12542C>A	XP_006711865.1:p.Pro4181His
XM_006711803.2:c.12539C>A	XP_006711866.1:p.Pro4180His
XM_006711804.2:c.12518C>A	XP_006711867.1:p.Pro4173His
XM_006711805.2:c.12512C>A	XP_006711868.1:p.Pro4171His
XM_006711806.2:c.12506C>A	XP_006711869.1:p.Pro4169His
XM_006711807.2:c.12482C>A	XP_006711870.1:p.Pro4161His
XM_006711808.2:c.12305C>A	XP_006711871.1:p.Pro4102His
XM_006711810.2:c.12449C>A	XP_006711873.1:p.Pro4150His
XM_006711802.3:c.12542C>A	XP_006711865.1:p.Pro4181His
XM_006711803.3:c.12539C>A	XP_006711866.1:p.Pro4180His
XM_006711804.3:c.12518C>A	XP_006711867.1:p.Pro4173His
XM_006711805.3:c.12512C>A	XP_006711868.1:p.Pro4171His
XM_006711806.3:c.12506C>A	XP_006711869.1:p.Pro4169His
XM_006711807.3:c.12482C>A	XP_006711870.1:p.Pro4161His
XM_006711808.3:c.12305C>A	XP_006711871.1:p.Pro4102His
XM_006711810.3:c.12449C>A	XP_006711873.1:p.Pro4150His
XM_017002028.1:c.12521C>A	XP_016857517.1:p.Pro4174His
NM_001035.3:c.12488C>A MANE Select	NP_001026.2:p.Pro4163His