Canonical Allele Identifier: CA345406687

Gene: RYR2

Linked Data

• dbSNP Id: rs1421239060
• gnomAD v2: 1-237934137-C-T
• gnomAD v4: 1-237770837-C-T
• MyVariant Identifiers: chr1:g.237934137C>T (hg19) ; chr1:g.237770837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237770837C>T , CM000663.2:g.237770837C>T	GRCh38
NC_000001.10:g.237934137C>T , CM000663.1:g.237934137C>T	GRCh37
NC_000001.9:g.236000760C>T	NCBI36
NG_008799.2:g.733436C>T
NG_008799.3:g.733654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*2599C>T	ENSP00000499659.2:n.*2599C>T
ENST00000659194.3:c.11495C>T	ENSP00000499653.3:p.Thr3832Ile
ENST00000660292.2:c.11528C>T	ENSP00000499787.2:p.Thr3843Ile
ENST00000659194.2:c.3684C>T
ENST00000366574.7:c.11507C>T MANE Select	ENSP00000355533.2:p.Thr3836Ile
ENST00000659194.1:c.3684C>T
ENST00000660292.1:c.1560C>T
ENST00000360064.7:c.11459C>T	ENSP00000353174.7:p.Thr3820Ile
ENST00000366574.6:c.11507C>T	ENSP00000355533.2:p.Thr3836Ile
ENST00000609119.1:n.2702C>T
NM_001035.2:c.11507C>T	NP_001026.2:p.Thr3836Ile
XM_006711802.2:c.11561C>T	XP_006711865.1:p.Thr3854Ile
XM_006711803.2:c.11558C>T	XP_006711866.1:p.Thr3853Ile
XM_006711804.2:c.11537C>T	XP_006711867.1:p.Thr3846Ile
XM_006711805.2:c.11531C>T	XP_006711868.1:p.Thr3844Ile
XM_006711806.2:c.11525C>T	XP_006711869.1:p.Thr3842Ile
XM_006711807.2:c.11501C>T	XP_006711870.1:p.Thr3834Ile
XM_006711808.2:c.11324C>T	XP_006711871.1:p.Thr3775Ile
XM_006711810.2:c.11468C>T	XP_006711873.1:p.Thr3823Ile
XM_006711802.3:c.11561C>T	XP_006711865.1:p.Thr3854Ile
XM_006711803.3:c.11558C>T	XP_006711866.1:p.Thr3853Ile
XM_006711804.3:c.11537C>T	XP_006711867.1:p.Thr3846Ile
XM_006711805.3:c.11531C>T	XP_006711868.1:p.Thr3844Ile
XM_006711806.3:c.11525C>T	XP_006711869.1:p.Thr3842Ile
XM_006711807.3:c.11501C>T	XP_006711870.1:p.Thr3834Ile
XM_006711808.3:c.11324C>T	XP_006711871.1:p.Thr3775Ile
XM_006711810.3:c.11468C>T	XP_006711873.1:p.Thr3823Ile
XM_017002028.1:c.11540C>T	XP_016857517.1:p.Thr3847Ile
NM_001035.3:c.11507C>T MANE Select	NP_001026.2:p.Thr3836Ile