Canonical Allele Identifier: CA424032275

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947520A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784220A>C , CM000663.2:g.237784220A>C	GRCh38
NC_000001.10:g.237947520A>C , CM000663.1:g.237947520A>C	GRCh37
NC_000001.9:g.236014143A>C	NCBI36
NG_008799.2:g.746819A>C
NG_008799.3:g.747037A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*3600A>C	ENSP00000499659.2:n.*3600A>C
ENST00000659194.3:c.12496A>C	ENSP00000499653.3:p.Arg4166=
ENST00000660292.2:c.12529A>C	ENSP00000499787.2:p.Arg4177=
ENST00000659194.2:c.4685A>C
ENST00000366574.7:c.12508A>C MANE Select	ENSP00000355533.2:p.Arg4170=
ENST00000659194.1:c.4685A>C
ENST00000660292.1:c.2561A>C
ENST00000360064.7:c.12460A>C	ENSP00000353174.7:p.Arg4154=
ENST00000366574.6:c.12508A>C	ENSP00000355533.2:p.Arg4170=
ENST00000609119.1:n.3703A>C
NM_001035.2:c.12508A>C	NP_001026.2:p.Arg4170=
XM_006711802.2:c.12562A>C	XP_006711865.1:p.Arg4188=
XM_006711803.2:c.12559A>C	XP_006711866.1:p.Arg4187=
XM_006711804.2:c.12538A>C	XP_006711867.1:p.Arg4180=
XM_006711805.2:c.12532A>C	XP_006711868.1:p.Arg4178=
XM_006711806.2:c.12526A>C	XP_006711869.1:p.Arg4176=
XM_006711807.2:c.12502A>C	XP_006711870.1:p.Arg4168=
XM_006711808.2:c.12325A>C	XP_006711871.1:p.Arg4109=
XM_006711810.2:c.12469A>C	XP_006711873.1:p.Arg4157=
XM_006711802.3:c.12562A>C	XP_006711865.1:p.Arg4188=
XM_006711803.3:c.12559A>C	XP_006711866.1:p.Arg4187=
XM_006711804.3:c.12538A>C	XP_006711867.1:p.Arg4180=
XM_006711805.3:c.12532A>C	XP_006711868.1:p.Arg4178=
XM_006711806.3:c.12526A>C	XP_006711869.1:p.Arg4176=
XM_006711807.3:c.12502A>C	XP_006711870.1:p.Arg4168=
XM_006711808.3:c.12325A>C	XP_006711871.1:p.Arg4109=
XM_006711810.3:c.12469A>C	XP_006711873.1:p.Arg4157=
XM_017002028.1:c.12541A>C	XP_016857517.1:p.Arg4181=
NM_001035.3:c.12508A>C MANE Select	NP_001026.2:p.Arg4170=