Canonical Allele Identifier: CA345413446

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947497A>T (hg19) ; chr1:g.237784197A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784197A>T , CM000663.2:g.237784197A>T	GRCh38
NC_000001.10:g.237947497A>T , CM000663.1:g.237947497A>T	GRCh37
NC_000001.9:g.236014120A>T	NCBI36
NG_008799.2:g.746796A>T
NG_008799.3:g.747014A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3577A>T	ENSP00000499659.2:n.*3577A>T
ENST00000659194.3:c.12473A>T	ENSP00000499653.3:p.Lys4158Met
ENST00000660292.2:c.12506A>T	ENSP00000499787.2:p.Lys4169Met
ENST00000659194.2:c.4662A>T
ENST00000366574.7:c.12485A>T MANE Select	ENSP00000355533.2:p.Lys4162Met
ENST00000659194.1:c.4662A>T
ENST00000660292.1:c.2538A>T
ENST00000360064.7:c.12437A>T	ENSP00000353174.7:p.Lys4146Met
ENST00000366574.6:c.12485A>T	ENSP00000355533.2:p.Lys4162Met
ENST00000609119.1:n.3680A>T
NM_001035.2:c.12485A>T	NP_001026.2:p.Lys4162Met
XM_006711802.2:c.12539A>T	XP_006711865.1:p.Lys4180Met
XM_006711803.2:c.12536A>T	XP_006711866.1:p.Lys4179Met
XM_006711804.2:c.12515A>T	XP_006711867.1:p.Lys4172Met
XM_006711805.2:c.12509A>T	XP_006711868.1:p.Lys4170Met
XM_006711806.2:c.12503A>T	XP_006711869.1:p.Lys4168Met
XM_006711807.2:c.12479A>T	XP_006711870.1:p.Lys4160Met
XM_006711808.2:c.12302A>T	XP_006711871.1:p.Lys4101Met
XM_006711810.2:c.12446A>T	XP_006711873.1:p.Lys4149Met
XM_006711802.3:c.12539A>T	XP_006711865.1:p.Lys4180Met
XM_006711803.3:c.12536A>T	XP_006711866.1:p.Lys4179Met
XM_006711804.3:c.12515A>T	XP_006711867.1:p.Lys4172Met
XM_006711805.3:c.12509A>T	XP_006711868.1:p.Lys4170Met
XM_006711806.3:c.12503A>T	XP_006711869.1:p.Lys4168Met
XM_006711807.3:c.12479A>T	XP_006711870.1:p.Lys4160Met
XM_006711808.3:c.12302A>T	XP_006711871.1:p.Lys4101Met
XM_006711810.3:c.12446A>T	XP_006711873.1:p.Lys4149Met
XM_017002028.1:c.12518A>T	XP_016857517.1:p.Lys4173Met
NM_001035.3:c.12485A>T MANE Select	NP_001026.2:p.Lys4162Met