Canonical Allele Identifier: CA345426810

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237982484T>A (hg19) ; chr1:g.237819184T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237819184T>A , CM000663.2:g.237819184T>A	GRCh38
NC_000001.10:g.237982484T>A , CM000663.1:g.237982484T>A	GRCh37
NC_000001.9:g.236049107T>A	NCBI36
NG_008799.2:g.781783T>A
NG_008799.3:g.782001T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*5674T>A	ENSP00000499659.2:n.*5674T>A
ENST00000659194.3:c.14564T>A	ENSP00000499653.3:p.Ile4855Lys
ENST00000660292.2:c.14603T>A	ENSP00000499787.2:p.Ile4868Lys
ENST00000659194.2:c.6753T>A
ENST00000366574.7:c.14582T>A MANE Select	ENSP00000355533.2:p.Ile4861Lys
ENST00000360064.7:c.14531T>A	ENSP00000353174.7:p.Ile4844Lys
ENST00000366574.6:c.14582T>A	ENSP00000355533.2:p.Ile4861Lys
ENST00000608590.5:n.1093T>A
NM_001035.2:c.14582T>A	NP_001026.2:p.Ile4861Lys
XM_006711802.2:c.14636T>A	XP_006711865.1:p.Ile4879Lys
XM_006711803.2:c.14633T>A	XP_006711866.1:p.Ile4878Lys
XM_006711804.2:c.14612T>A	XP_006711867.1:p.Ile4871Lys
XM_006711805.2:c.14606T>A	XP_006711868.1:p.Ile4869Lys
XM_006711806.2:c.14600T>A	XP_006711869.1:p.Ile4867Lys
XM_006711807.2:c.14576T>A	XP_006711870.1:p.Ile4859Lys
XM_006711808.2:c.14399T>A	XP_006711871.1:p.Ile4800Lys
XM_006711810.2:c.14543T>A	XP_006711873.1:p.Ile4848Lys
XM_006711802.3:c.14636T>A	XP_006711865.1:p.Ile4879Lys
XM_006711803.3:c.14633T>A	XP_006711866.1:p.Ile4878Lys
XM_006711804.3:c.14612T>A	XP_006711867.1:p.Ile4871Lys
XM_006711805.3:c.14606T>A	XP_006711868.1:p.Ile4869Lys
XM_006711806.3:c.14600T>A	XP_006711869.1:p.Ile4867Lys
XM_006711807.3:c.14576T>A	XP_006711870.1:p.Ile4859Lys
XM_006711808.3:c.14399T>A	XP_006711871.1:p.Ile4800Lys
XM_006711810.3:c.14543T>A	XP_006711873.1:p.Ile4848Lys
XM_017002028.1:c.14615T>A	XP_016857517.1:p.Ile4872Lys
NM_001035.3:c.14582T>A MANE Select	NP_001026.2:p.Ile4861Lys