Canonical Allele Identifier: CA345413477

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947509A>T (hg19) ; chr1:g.237784209A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784209A>T , CM000663.2:g.237784209A>T	GRCh38
NC_000001.10:g.237947509A>T , CM000663.1:g.237947509A>T	GRCh37
NC_000001.9:g.236014132A>T	NCBI36
NG_008799.2:g.746808A>T
NG_008799.3:g.747026A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3589A>T	ENSP00000499659.2:n.*3589A>T
ENST00000659194.3:c.12485A>T	ENSP00000499653.3:p.Lys4162Met
ENST00000660292.2:c.12518A>T	ENSP00000499787.2:p.Lys4173Met
ENST00000659194.2:c.4674A>T
ENST00000366574.7:c.12497A>T MANE Select	ENSP00000355533.2:p.Lys4166Met
ENST00000659194.1:c.4674A>T
ENST00000660292.1:c.2550A>T
ENST00000360064.7:c.12449A>T	ENSP00000353174.7:p.Lys4150Met
ENST00000366574.6:c.12497A>T	ENSP00000355533.2:p.Lys4166Met
ENST00000609119.1:n.3692A>T
NM_001035.2:c.12497A>T	NP_001026.2:p.Lys4166Met
XM_006711802.2:c.12551A>T	XP_006711865.1:p.Lys4184Met
XM_006711803.2:c.12548A>T	XP_006711866.1:p.Lys4183Met
XM_006711804.2:c.12527A>T	XP_006711867.1:p.Lys4176Met
XM_006711805.2:c.12521A>T	XP_006711868.1:p.Lys4174Met
XM_006711806.2:c.12515A>T	XP_006711869.1:p.Lys4172Met
XM_006711807.2:c.12491A>T	XP_006711870.1:p.Lys4164Met
XM_006711808.2:c.12314A>T	XP_006711871.1:p.Lys4105Met
XM_006711810.2:c.12458A>T	XP_006711873.1:p.Lys4153Met
XM_006711802.3:c.12551A>T	XP_006711865.1:p.Lys4184Met
XM_006711803.3:c.12548A>T	XP_006711866.1:p.Lys4183Met
XM_006711804.3:c.12527A>T	XP_006711867.1:p.Lys4176Met
XM_006711805.3:c.12521A>T	XP_006711868.1:p.Lys4174Met
XM_006711806.3:c.12515A>T	XP_006711869.1:p.Lys4172Met
XM_006711807.3:c.12491A>T	XP_006711870.1:p.Lys4164Met
XM_006711808.3:c.12314A>T	XP_006711871.1:p.Lys4105Met
XM_006711810.3:c.12458A>T	XP_006711873.1:p.Lys4153Met
XM_017002028.1:c.12530A>T	XP_016857517.1:p.Lys4177Met
NM_001035.3:c.12497A>T MANE Select	NP_001026.2:p.Lys4166Met