Canonical Allele Identifier: CA345406657

Gene: RYR2

Linked Data

• gnomAD v4: 1-237770826-C-A
• MyVariant Identifiers: chr1:g.237934126C>A (hg19) ; chr1:g.237770826C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770826C>A , CM000663.2:g.237770826C>A	GRCh38
NC_000001.10:g.237934126C>A , CM000663.1:g.237934126C>A	GRCh37
NC_000001.9:g.236000749C>A	NCBI36
NG_008799.2:g.733425C>A
NG_008799.3:g.733643C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2588C>A	ENSP00000499659.2:n.*2588C>A
ENST00000659194.3:c.11484C>A	ENSP00000499653.3:p.Asp3828Glu
ENST00000660292.2:c.11517C>A	ENSP00000499787.2:p.Asp3839Glu
ENST00000659194.2:c.3673C>A
ENST00000366574.7:c.11496C>A MANE Select	ENSP00000355533.2:p.Asp3832Glu
ENST00000659194.1:c.3673C>A
ENST00000660292.1:c.1549C>A
ENST00000360064.7:c.11448C>A	ENSP00000353174.7:p.Asp3816Glu
ENST00000366574.6:c.11496C>A	ENSP00000355533.2:p.Asp3832Glu
ENST00000609119.1:n.2691C>A
NM_001035.2:c.11496C>A	NP_001026.2:p.Asp3832Glu
XM_006711802.2:c.11550C>A	XP_006711865.1:p.Asp3850Glu
XM_006711803.2:c.11547C>A	XP_006711866.1:p.Asp3849Glu
XM_006711804.2:c.11526C>A	XP_006711867.1:p.Asp3842Glu
XM_006711805.2:c.11520C>A	XP_006711868.1:p.Asp3840Glu
XM_006711806.2:c.11514C>A	XP_006711869.1:p.Asp3838Glu
XM_006711807.2:c.11490C>A	XP_006711870.1:p.Asp3830Glu
XM_006711808.2:c.11313C>A	XP_006711871.1:p.Asp3771Glu
XM_006711810.2:c.11457C>A	XP_006711873.1:p.Asp3819Glu
XM_006711802.3:c.11550C>A	XP_006711865.1:p.Asp3850Glu
XM_006711803.3:c.11547C>A	XP_006711866.1:p.Asp3849Glu
XM_006711804.3:c.11526C>A	XP_006711867.1:p.Asp3842Glu
XM_006711805.3:c.11520C>A	XP_006711868.1:p.Asp3840Glu
XM_006711806.3:c.11514C>A	XP_006711869.1:p.Asp3838Glu
XM_006711807.3:c.11490C>A	XP_006711870.1:p.Asp3830Glu
XM_006711808.3:c.11313C>A	XP_006711871.1:p.Asp3771Glu
XM_006711810.3:c.11457C>A	XP_006711873.1:p.Asp3819Glu
XM_017002028.1:c.11529C>A	XP_016857517.1:p.Asp3843Glu
NM_001035.3:c.11496C>A MANE Select	NP_001026.2:p.Asp3832Glu