Canonical Allele Identifier: CA423824322

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237942016T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237778716T>C , CM000663.2:g.237778716T>C	GRCh38
NC_000001.10:g.237942016T>C , CM000663.1:g.237942016T>C	GRCh37
NC_000001.9:g.236008639T>C	NCBI36
NG_008799.2:g.741315T>C
NG_008799.3:g.741533T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609119.2:c.*2918T>C	ENSP00000499659.2:n.*2918T>C
ENST00000659194.3:c.11814T>C	ENSP00000499653.3:p.Asp3938=
ENST00000660292.2:c.11847T>C	ENSP00000499787.2:p.Asp3949=
ENST00000659194.2:c.4003T>C
ENST00000366574.7:c.11826T>C MANE Select	ENSP00000355533.2:p.Asp3942=
ENST00000659194.1:c.4003T>C
ENST00000660292.1:c.1879T>C
ENST00000360064.7:c.11778T>C	ENSP00000353174.7:p.Asp3926=
ENST00000366574.6:c.11826T>C	ENSP00000355533.2:p.Asp3942=
ENST00000609119.1:n.3021T>C
NM_001035.2:c.11826T>C	NP_001026.2:p.Asp3942=
XM_006711802.2:c.11880T>C	XP_006711865.1:p.Asp3960=
XM_006711803.2:c.11877T>C	XP_006711866.1:p.Asp3959=
XM_006711804.2:c.11856T>C	XP_006711867.1:p.Asp3952=
XM_006711805.2:c.11850T>C	XP_006711868.1:p.Asp3950=
XM_006711806.2:c.11844T>C	XP_006711869.1:p.Asp3948=
XM_006711807.2:c.11820T>C	XP_006711870.1:p.Asp3940=
XM_006711808.2:c.11643T>C	XP_006711871.1:p.Asp3881=
XM_006711810.2:c.11787T>C	XP_006711873.1:p.Asp3929=
XM_006711802.3:c.11880T>C	XP_006711865.1:p.Asp3960=
XM_006711803.3:c.11877T>C	XP_006711866.1:p.Asp3959=
XM_006711804.3:c.11856T>C	XP_006711867.1:p.Asp3952=
XM_006711805.3:c.11850T>C	XP_006711868.1:p.Asp3950=
XM_006711806.3:c.11844T>C	XP_006711869.1:p.Asp3948=
XM_006711807.3:c.11820T>C	XP_006711870.1:p.Asp3940=
XM_006711808.3:c.11643T>C	XP_006711871.1:p.Asp3881=
XM_006711810.3:c.11787T>C	XP_006711873.1:p.Asp3929=
XM_017002028.1:c.11859T>C	XP_016857517.1:p.Asp3953=
NM_001035.3:c.11826T>C MANE Select	NP_001026.2:p.Asp3942=