Canonical Allele Identifier: CA424051737

Gene: RYR2

Linked Data

• COSMIC: COSM4403732 ; COSM4403733
• MyVariant Identifiers: chr1:g.237972278C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237808978C>T , CM000663.2:g.237808978C>T	GRCh38
NC_000001.10:g.237972278C>T , CM000663.1:g.237972278C>T	GRCh37
NC_000001.9:g.236038901C>T	NCBI36
NG_008799.2:g.771577C>T
NG_008799.3:g.771795C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5468C>T	ENSP00000499659.2:n.*5468C>T
ENST00000659194.3:c.14358C>T	ENSP00000499653.3:p.Phe4786=
ENST00000660292.2:c.14397C>T	ENSP00000499787.2:p.Phe4799=
ENST00000659194.2:c.6547C>T
ENST00000366574.7:c.14376C>T MANE Select	ENSP00000355533.2:p.Phe4792=
ENST00000360064.7:c.14325C>T	ENSP00000353174.7:p.Phe4775=
ENST00000366574.6:c.14376C>T	ENSP00000355533.2:p.Phe4792=
ENST00000608590.5:n.887C>T
NM_001035.2:c.14376C>T	NP_001026.2:p.Phe4792=
XM_006711802.2:c.14430C>T	XP_006711865.1:p.Phe4810=
XM_006711803.2:c.14427C>T	XP_006711866.1:p.Phe4809=
XM_006711804.2:c.14406C>T	XP_006711867.1:p.Phe4802=
XM_006711805.2:c.14400C>T	XP_006711868.1:p.Phe4800=
XM_006711806.2:c.14394C>T	XP_006711869.1:p.Phe4798=
XM_006711807.2:c.14370C>T	XP_006711870.1:p.Phe4790=
XM_006711808.2:c.14193C>T	XP_006711871.1:p.Phe4731=
XM_006711810.2:c.14337C>T	XP_006711873.1:p.Phe4779=
XM_006711802.3:c.14430C>T	XP_006711865.1:p.Phe4810=
XM_006711803.3:c.14427C>T	XP_006711866.1:p.Phe4809=
XM_006711804.3:c.14406C>T	XP_006711867.1:p.Phe4802=
XM_006711805.3:c.14400C>T	XP_006711868.1:p.Phe4800=
XM_006711806.3:c.14394C>T	XP_006711869.1:p.Phe4798=
XM_006711807.3:c.14370C>T	XP_006711870.1:p.Phe4790=
XM_006711808.3:c.14193C>T	XP_006711871.1:p.Phe4731=
XM_006711810.3:c.14337C>T	XP_006711873.1:p.Phe4779=
XM_017002028.1:c.14409C>T	XP_016857517.1:p.Phe4803=
NM_001035.3:c.14376C>T MANE Select	NP_001026.2:p.Phe4792=