Canonical Allele Identifier: CA345413469

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947506T>A (hg19) ; chr1:g.237784206T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784206T>A , CM000663.2:g.237784206T>A	GRCh38
NC_000001.10:g.237947506T>A , CM000663.1:g.237947506T>A	GRCh37
NC_000001.9:g.236014129T>A	NCBI36
NG_008799.2:g.746805T>A
NG_008799.3:g.747023T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3586T>A	ENSP00000499659.2:n.*3586T>A
ENST00000659194.3:c.12482T>A	ENSP00000499653.3:p.Val4161Asp
ENST00000660292.2:c.12515T>A	ENSP00000499787.2:p.Val4172Asp
ENST00000659194.2:c.4671T>A
ENST00000366574.7:c.12494T>A MANE Select	ENSP00000355533.2:p.Val4165Asp
ENST00000659194.1:c.4671T>A
ENST00000660292.1:c.2547T>A
ENST00000360064.7:c.12446T>A	ENSP00000353174.7:p.Val4149Asp
ENST00000366574.6:c.12494T>A	ENSP00000355533.2:p.Val4165Asp
ENST00000609119.1:n.3689T>A
NM_001035.2:c.12494T>A	NP_001026.2:p.Val4165Asp
XM_006711802.2:c.12548T>A	XP_006711865.1:p.Val4183Asp
XM_006711803.2:c.12545T>A	XP_006711866.1:p.Val4182Asp
XM_006711804.2:c.12524T>A	XP_006711867.1:p.Val4175Asp
XM_006711805.2:c.12518T>A	XP_006711868.1:p.Val4173Asp
XM_006711806.2:c.12512T>A	XP_006711869.1:p.Val4171Asp
XM_006711807.2:c.12488T>A	XP_006711870.1:p.Val4163Asp
XM_006711808.2:c.12311T>A	XP_006711871.1:p.Val4104Asp
XM_006711810.2:c.12455T>A	XP_006711873.1:p.Val4152Asp
XM_006711802.3:c.12548T>A	XP_006711865.1:p.Val4183Asp
XM_006711803.3:c.12545T>A	XP_006711866.1:p.Val4182Asp
XM_006711804.3:c.12524T>A	XP_006711867.1:p.Val4175Asp
XM_006711805.3:c.12518T>A	XP_006711868.1:p.Val4173Asp
XM_006711806.3:c.12512T>A	XP_006711869.1:p.Val4171Asp
XM_006711807.3:c.12488T>A	XP_006711870.1:p.Val4163Asp
XM_006711808.3:c.12311T>A	XP_006711871.1:p.Val4104Asp
XM_006711810.3:c.12455T>A	XP_006711873.1:p.Val4152Asp
XM_017002028.1:c.12527T>A	XP_016857517.1:p.Val4176Asp
NM_001035.3:c.12494T>A MANE Select	NP_001026.2:p.Val4165Asp