Canonical Allele Identifier: CA345406664

Gene: RYR2

Linked Data

• gnomAD v4: 1-237770829-T-A
• MyVariant Identifiers: chr1:g.237934129T>A (hg19) ; chr1:g.237770829T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770829T>A , CM000663.2:g.237770829T>A	GRCh38
NC_000001.10:g.237934129T>A , CM000663.1:g.237934129T>A	GRCh37
NC_000001.9:g.236000752T>A	NCBI36
NG_008799.2:g.733428T>A
NG_008799.3:g.733646T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2591T>A	ENSP00000499659.2:n.*2591T>A
ENST00000659194.3:c.11487T>A	ENSP00000499653.3:p.Asp3829Glu
ENST00000660292.2:c.11520T>A	ENSP00000499787.2:p.Asp3840Glu
ENST00000659194.2:c.3676T>A
ENST00000366574.7:c.11499T>A MANE Select	ENSP00000355533.2:p.Asp3833Glu
ENST00000659194.1:c.3676T>A
ENST00000660292.1:c.1552T>A
ENST00000360064.7:c.11451T>A	ENSP00000353174.7:p.Asp3817Glu
ENST00000366574.6:c.11499T>A	ENSP00000355533.2:p.Asp3833Glu
ENST00000609119.1:n.2694T>A
NM_001035.2:c.11499T>A	NP_001026.2:p.Asp3833Glu
XM_006711802.2:c.11553T>A	XP_006711865.1:p.Asp3851Glu
XM_006711803.2:c.11550T>A	XP_006711866.1:p.Asp3850Glu
XM_006711804.2:c.11529T>A	XP_006711867.1:p.Asp3843Glu
XM_006711805.2:c.11523T>A	XP_006711868.1:p.Asp3841Glu
XM_006711806.2:c.11517T>A	XP_006711869.1:p.Asp3839Glu
XM_006711807.2:c.11493T>A	XP_006711870.1:p.Asp3831Glu
XM_006711808.2:c.11316T>A	XP_006711871.1:p.Asp3772Glu
XM_006711810.2:c.11460T>A	XP_006711873.1:p.Asp3820Glu
XM_006711802.3:c.11553T>A	XP_006711865.1:p.Asp3851Glu
XM_006711803.3:c.11550T>A	XP_006711866.1:p.Asp3850Glu
XM_006711804.3:c.11529T>A	XP_006711867.1:p.Asp3843Glu
XM_006711805.3:c.11523T>A	XP_006711868.1:p.Asp3841Glu
XM_006711806.3:c.11517T>A	XP_006711869.1:p.Asp3839Glu
XM_006711807.3:c.11493T>A	XP_006711870.1:p.Asp3831Glu
XM_006711808.3:c.11316T>A	XP_006711871.1:p.Asp3772Glu
XM_006711810.3:c.11460T>A	XP_006711873.1:p.Asp3820Glu
XM_017002028.1:c.11532T>A	XP_016857517.1:p.Asp3844Glu
NM_001035.3:c.11499T>A MANE Select	NP_001026.2:p.Asp3833Glu