Canonical Allele Identifier: CA345413511

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947523C>T (hg19) ; chr1:g.237784223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784223C>T , CM000663.2:g.237784223C>T	GRCh38
NC_000001.10:g.237947523C>T , CM000663.1:g.237947523C>T	GRCh37
NC_000001.9:g.236014146C>T	NCBI36
NG_008799.2:g.746822C>T
NG_008799.3:g.747040C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3603C>T	ENSP00000499659.2:n.*3603C>T
ENST00000659194.3:c.12499C>T	ENSP00000499653.3:p.Gln4167Ter
ENST00000660292.2:c.12532C>T	ENSP00000499787.2:p.Gln4178Ter
ENST00000659194.2:c.4688C>T
ENST00000366574.7:c.12511C>T MANE Select	ENSP00000355533.2:p.Gln4171Ter
ENST00000659194.1:c.4688C>T
ENST00000660292.1:c.2564C>T
ENST00000360064.7:c.12463C>T	ENSP00000353174.7:p.Gln4155Ter
ENST00000366574.6:c.12511C>T	ENSP00000355533.2:p.Gln4171Ter
ENST00000609119.1:n.3706C>T
NM_001035.2:c.12511C>T	NP_001026.2:p.Gln4171Ter
XM_006711802.2:c.12565C>T	XP_006711865.1:p.Gln4189Ter
XM_006711803.2:c.12562C>T	XP_006711866.1:p.Gln4188Ter
XM_006711804.2:c.12541C>T	XP_006711867.1:p.Gln4181Ter
XM_006711805.2:c.12535C>T	XP_006711868.1:p.Gln4179Ter
XM_006711806.2:c.12529C>T	XP_006711869.1:p.Gln4177Ter
XM_006711807.2:c.12505C>T	XP_006711870.1:p.Gln4169Ter
XM_006711808.2:c.12328C>T	XP_006711871.1:p.Gln4110Ter
XM_006711810.2:c.12472C>T	XP_006711873.1:p.Gln4158Ter
XM_006711802.3:c.12565C>T	XP_006711865.1:p.Gln4189Ter
XM_006711803.3:c.12562C>T	XP_006711866.1:p.Gln4188Ter
XM_006711804.3:c.12541C>T	XP_006711867.1:p.Gln4181Ter
XM_006711805.3:c.12535C>T	XP_006711868.1:p.Gln4179Ter
XM_006711806.3:c.12529C>T	XP_006711869.1:p.Gln4177Ter
XM_006711807.3:c.12505C>T	XP_006711870.1:p.Gln4169Ter
XM_006711808.3:c.12328C>T	XP_006711871.1:p.Gln4110Ter
XM_006711810.3:c.12472C>T	XP_006711873.1:p.Gln4158Ter
XM_017002028.1:c.12544C>T	XP_016857517.1:p.Gln4182Ter
NM_001035.3:c.12511C>T MANE Select	NP_001026.2:p.Gln4171Ter