Canonical Allele Identifier: CA345424213

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972250T>A (hg19) ; chr1:g.237808950T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808950T>A , CM000663.2:g.237808950T>A	GRCh38
NC_000001.10:g.237972250T>A , CM000663.1:g.237972250T>A	GRCh37
NC_000001.9:g.236038873T>A	NCBI36
NG_008799.2:g.771549T>A
NG_008799.3:g.771767T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5440T>A	ENSP00000499659.2:n.*5440T>A
ENST00000659194.3:c.14330T>A	ENSP00000499653.3:p.Val4777Glu
ENST00000660292.2:c.14369T>A	ENSP00000499787.2:p.Val4790Glu
ENST00000659194.2:c.6519T>A
ENST00000366574.7:c.14348T>A MANE Select	ENSP00000355533.2:p.Val4783Glu
ENST00000360064.7:c.14297T>A	ENSP00000353174.7:p.Val4766Glu
ENST00000366574.6:c.14348T>A	ENSP00000355533.2:p.Val4783Glu
ENST00000608590.5:n.859T>A
NM_001035.2:c.14348T>A	NP_001026.2:p.Val4783Glu
XM_006711802.2:c.14402T>A	XP_006711865.1:p.Val4801Glu
XM_006711803.2:c.14399T>A	XP_006711866.1:p.Val4800Glu
XM_006711804.2:c.14378T>A	XP_006711867.1:p.Val4793Glu
XM_006711805.2:c.14372T>A	XP_006711868.1:p.Val4791Glu
XM_006711806.2:c.14366T>A	XP_006711869.1:p.Val4789Glu
XM_006711807.2:c.14342T>A	XP_006711870.1:p.Val4781Glu
XM_006711808.2:c.14165T>A	XP_006711871.1:p.Val4722Glu
XM_006711810.2:c.14309T>A	XP_006711873.1:p.Val4770Glu
XM_006711802.3:c.14402T>A	XP_006711865.1:p.Val4801Glu
XM_006711803.3:c.14399T>A	XP_006711866.1:p.Val4800Glu
XM_006711804.3:c.14378T>A	XP_006711867.1:p.Val4793Glu
XM_006711805.3:c.14372T>A	XP_006711868.1:p.Val4791Glu
XM_006711806.3:c.14366T>A	XP_006711869.1:p.Val4789Glu
XM_006711807.3:c.14342T>A	XP_006711870.1:p.Val4781Glu
XM_006711808.3:c.14165T>A	XP_006711871.1:p.Val4722Glu
XM_006711810.3:c.14309T>A	XP_006711873.1:p.Val4770Glu
XM_017002028.1:c.14381T>A	XP_016857517.1:p.Val4794Glu
NM_001035.3:c.14348T>A MANE Select	NP_001026.2:p.Val4783Glu