Canonical Allele Identifier: CA345413731

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947616C>A (hg19) ; chr1:g.237784316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784316C>A , CM000663.2:g.237784316C>A	GRCh38
NC_000001.10:g.237947616C>A , CM000663.1:g.237947616C>A	GRCh37
NC_000001.9:g.236014239C>A	NCBI36
NG_008799.2:g.746915C>A
NG_008799.3:g.747133C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3696C>A	ENSP00000499659.2:n.*3696C>A
ENST00000659194.3:c.12592C>A	ENSP00000499653.3:p.Leu4198Met
ENST00000660292.2:c.12625C>A	ENSP00000499787.2:p.Leu4209Met
ENST00000659194.2:c.4781C>A
ENST00000366574.7:c.12604C>A MANE Select	ENSP00000355533.2:p.Leu4202Met
ENST00000659194.1:c.4781C>A
ENST00000660292.1:c.2657C>A
ENST00000360064.7:c.12556C>A	ENSP00000353174.7:p.Leu4186Met
ENST00000366574.6:c.12604C>A	ENSP00000355533.2:p.Leu4202Met
ENST00000609119.1:n.3799C>A
NM_001035.2:c.12604C>A	NP_001026.2:p.Leu4202Met
XM_006711802.2:c.12658C>A	XP_006711865.1:p.Leu4220Met
XM_006711803.2:c.12655C>A	XP_006711866.1:p.Leu4219Met
XM_006711804.2:c.12634C>A	XP_006711867.1:p.Leu4212Met
XM_006711805.2:c.12628C>A	XP_006711868.1:p.Leu4210Met
XM_006711806.2:c.12622C>A	XP_006711869.1:p.Leu4208Met
XM_006711807.2:c.12598C>A	XP_006711870.1:p.Leu4200Met
XM_006711808.2:c.12421C>A	XP_006711871.1:p.Leu4141Met
XM_006711810.2:c.12565C>A	XP_006711873.1:p.Leu4189Met
XM_006711802.3:c.12658C>A	XP_006711865.1:p.Leu4220Met
XM_006711803.3:c.12655C>A	XP_006711866.1:p.Leu4219Met
XM_006711804.3:c.12634C>A	XP_006711867.1:p.Leu4212Met
XM_006711805.3:c.12628C>A	XP_006711868.1:p.Leu4210Met
XM_006711806.3:c.12622C>A	XP_006711869.1:p.Leu4208Met
XM_006711807.3:c.12598C>A	XP_006711870.1:p.Leu4200Met
XM_006711808.3:c.12421C>A	XP_006711871.1:p.Leu4141Met
XM_006711810.3:c.12565C>A	XP_006711873.1:p.Leu4189Met
XM_017002028.1:c.12637C>A	XP_016857517.1:p.Leu4213Met
NM_001035.3:c.12604C>A MANE Select	NP_001026.2:p.Leu4202Met