Canonical Allele Identifier: CA345429362

Gene: RYR2

Linked Data

• gnomAD v4: 1-237828415-C-A
• MyVariant Identifiers: chr1:g.237991715C>A (hg19) ; chr1:g.237828415C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237828415C>A , CM000663.2:g.237828415C>A	GRCh38
NC_000001.10:g.237991715C>A , CM000663.1:g.237991715C>A	GRCh37
NC_000001.9:g.236058338C>A	NCBI36
NG_008799.2:g.791014C>A
NG_008799.3:g.791232C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5717C>A	ENSP00000499659.2:n.*5717C>A
ENST00000659194.3:c.14607C>A	ENSP00000499653.3:p.Asp4869Glu
ENST00000660292.2:c.14646C>A	ENSP00000499787.2:p.Asp4882Glu
ENST00000659194.2:c.6796C>A
ENST00000366574.7:c.14625C>A MANE Select	ENSP00000355533.2:p.Asp4875Glu
ENST00000360064.7:c.14574C>A	ENSP00000353174.7:p.Asp4858Glu
ENST00000366574.6:c.14625C>A	ENSP00000355533.2:p.Asp4875Glu
ENST00000608590.5:n.1136C>A
NM_001035.2:c.14625C>A	NP_001026.2:p.Asp4875Glu
XM_006711802.2:c.14679C>A	XP_006711865.1:p.Asp4893Glu
XM_006711803.2:c.14676C>A	XP_006711866.1:p.Asp4892Glu
XM_006711804.2:c.14655C>A	XP_006711867.1:p.Asp4885Glu
XM_006711805.2:c.14649C>A	XP_006711868.1:p.Asp4883Glu
XM_006711806.2:c.14643C>A	XP_006711869.1:p.Asp4881Glu
XM_006711807.2:c.14619C>A	XP_006711870.1:p.Asp4873Glu
XM_006711808.2:c.14442C>A	XP_006711871.1:p.Asp4814Glu
XM_006711810.2:c.14586C>A	XP_006711873.1:p.Asp4862Glu
XM_006711802.3:c.14679C>A	XP_006711865.1:p.Asp4893Glu
XM_006711803.3:c.14676C>A	XP_006711866.1:p.Asp4892Glu
XM_006711804.3:c.14655C>A	XP_006711867.1:p.Asp4885Glu
XM_006711805.3:c.14649C>A	XP_006711868.1:p.Asp4883Glu
XM_006711806.3:c.14643C>A	XP_006711869.1:p.Asp4881Glu
XM_006711807.3:c.14619C>A	XP_006711870.1:p.Asp4873Glu
XM_006711808.3:c.14442C>A	XP_006711871.1:p.Asp4814Glu
XM_006711810.3:c.14586C>A	XP_006711873.1:p.Asp4862Glu
XM_017002028.1:c.14658C>A	XP_016857517.1:p.Asp4886Glu
NM_001035.3:c.14625C>A MANE Select	NP_001026.2:p.Asp4875Glu