Canonical Allele Identifier: CA345406663

Gene: RYR2

Linked Data

• dbSNP Id: rs1172592826
• gnomAD v2: 1-237934128-A-T
• gnomAD v4: 1-237770828-A-T
• MyVariant Identifiers: chr1:g.237934128A>T (hg19) ; chr1:g.237770828A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770828A>T , CM000663.2:g.237770828A>T	GRCh38
NC_000001.10:g.237934128A>T , CM000663.1:g.237934128A>T	GRCh37
NC_000001.9:g.236000751A>T	NCBI36
NG_008799.2:g.733427A>T
NG_008799.3:g.733645A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2590A>T	ENSP00000499659.2:n.*2590A>T
ENST00000659194.3:c.11486A>T	ENSP00000499653.3:p.Asp3829Val
ENST00000660292.2:c.11519A>T	ENSP00000499787.2:p.Asp3840Val
ENST00000659194.2:c.3675A>T
ENST00000366574.7:c.11498A>T MANE Select	ENSP00000355533.2:p.Asp3833Val
ENST00000659194.1:c.3675A>T
ENST00000660292.1:c.1551A>T
ENST00000360064.7:c.11450A>T	ENSP00000353174.7:p.Asp3817Val
ENST00000366574.6:c.11498A>T	ENSP00000355533.2:p.Asp3833Val
ENST00000609119.1:n.2693A>T
NM_001035.2:c.11498A>T	NP_001026.2:p.Asp3833Val
XM_006711802.2:c.11552A>T	XP_006711865.1:p.Asp3851Val
XM_006711803.2:c.11549A>T	XP_006711866.1:p.Asp3850Val
XM_006711804.2:c.11528A>T	XP_006711867.1:p.Asp3843Val
XM_006711805.2:c.11522A>T	XP_006711868.1:p.Asp3841Val
XM_006711806.2:c.11516A>T	XP_006711869.1:p.Asp3839Val
XM_006711807.2:c.11492A>T	XP_006711870.1:p.Asp3831Val
XM_006711808.2:c.11315A>T	XP_006711871.1:p.Asp3772Val
XM_006711810.2:c.11459A>T	XP_006711873.1:p.Asp3820Val
XM_006711802.3:c.11552A>T	XP_006711865.1:p.Asp3851Val
XM_006711803.3:c.11549A>T	XP_006711866.1:p.Asp3850Val
XM_006711804.3:c.11528A>T	XP_006711867.1:p.Asp3843Val
XM_006711805.3:c.11522A>T	XP_006711868.1:p.Asp3841Val
XM_006711806.3:c.11516A>T	XP_006711869.1:p.Asp3839Val
XM_006711807.3:c.11492A>T	XP_006711870.1:p.Asp3831Val
XM_006711808.3:c.11315A>T	XP_006711871.1:p.Asp3772Val
XM_006711810.3:c.11459A>T	XP_006711873.1:p.Asp3820Val
XM_017002028.1:c.11531A>T	XP_016857517.1:p.Asp3844Val
NM_001035.3:c.11498A>T MANE Select	NP_001026.2:p.Asp3833Val