Canonical Allele Identifier: CA345424452

Gene: RYR2

Linked Data

• COSMIC: COSM1728921
• MyVariant Identifiers: chr1:g.237972302T>A (hg19) ; chr1:g.237809002T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809002T>A , CM000663.2:g.237809002T>A	GRCh38
NC_000001.10:g.237972302T>A , CM000663.1:g.237972302T>A	GRCh37
NC_000001.9:g.236038925T>A	NCBI36
NG_008799.2:g.771601T>A
NG_008799.3:g.771819T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5492T>A	ENSP00000499659.2:n.*5492T>A
ENST00000659194.3:c.14382T>A	ENSP00000499653.3:p.Asp4794Glu
ENST00000660292.2:c.14421T>A	ENSP00000499787.2:p.Asp4807Glu
ENST00000659194.2:c.6571T>A
ENST00000366574.7:c.14400T>A MANE Select	ENSP00000355533.2:p.Asp4800Glu
ENST00000360064.7:c.14349T>A	ENSP00000353174.7:p.Asp4783Glu
ENST00000366574.6:c.14400T>A	ENSP00000355533.2:p.Asp4800Glu
ENST00000608590.5:n.911T>A
NM_001035.2:c.14400T>A	NP_001026.2:p.Asp4800Glu
XM_006711802.2:c.14454T>A	XP_006711865.1:p.Asp4818Glu
XM_006711803.2:c.14451T>A	XP_006711866.1:p.Asp4817Glu
XM_006711804.2:c.14430T>A	XP_006711867.1:p.Asp4810Glu
XM_006711805.2:c.14424T>A	XP_006711868.1:p.Asp4808Glu
XM_006711806.2:c.14418T>A	XP_006711869.1:p.Asp4806Glu
XM_006711807.2:c.14394T>A	XP_006711870.1:p.Asp4798Glu
XM_006711808.2:c.14217T>A	XP_006711871.1:p.Asp4739Glu
XM_006711810.2:c.14361T>A	XP_006711873.1:p.Asp4787Glu
XM_006711802.3:c.14454T>A	XP_006711865.1:p.Asp4818Glu
XM_006711803.3:c.14451T>A	XP_006711866.1:p.Asp4817Glu
XM_006711804.3:c.14430T>A	XP_006711867.1:p.Asp4810Glu
XM_006711805.3:c.14424T>A	XP_006711868.1:p.Asp4808Glu
XM_006711806.3:c.14418T>A	XP_006711869.1:p.Asp4806Glu
XM_006711807.3:c.14394T>A	XP_006711870.1:p.Asp4798Glu
XM_006711808.3:c.14217T>A	XP_006711871.1:p.Asp4739Glu
XM_006711810.3:c.14361T>A	XP_006711873.1:p.Asp4787Glu
XM_017002028.1:c.14433T>A	XP_016857517.1:p.Asp4811Glu
NM_001035.3:c.14400T>A MANE Select	NP_001026.2:p.Asp4800Glu