Canonical Allele Identifier: CA345413361

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947473A>C (hg19) ; chr1:g.237784173A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784173A>C , CM000663.2:g.237784173A>C	GRCh38
NC_000001.10:g.237947473A>C , CM000663.1:g.237947473A>C	GRCh37
NC_000001.9:g.236014096A>C	NCBI36
NG_008799.2:g.746772A>C
NG_008799.3:g.746990A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3553A>C	ENSP00000499659.2:n.*3553A>C
ENST00000659194.3:c.12449A>C	ENSP00000499653.3:p.Glu4150Ala
ENST00000660292.2:c.12482A>C	ENSP00000499787.2:p.Glu4161Ala
ENST00000659194.2:c.4638A>C
ENST00000366574.7:c.12461A>C MANE Select	ENSP00000355533.2:p.Glu4154Ala
ENST00000659194.1:c.4638A>C
ENST00000660292.1:c.2514A>C
ENST00000360064.7:c.12413A>C	ENSP00000353174.7:p.Glu4138Ala
ENST00000366574.6:c.12461A>C	ENSP00000355533.2:p.Glu4154Ala
ENST00000609119.1:n.3656A>C
NM_001035.2:c.12461A>C	NP_001026.2:p.Glu4154Ala
XM_006711802.2:c.12515A>C	XP_006711865.1:p.Glu4172Ala
XM_006711803.2:c.12512A>C	XP_006711866.1:p.Glu4171Ala
XM_006711804.2:c.12491A>C	XP_006711867.1:p.Glu4164Ala
XM_006711805.2:c.12485A>C	XP_006711868.1:p.Glu4162Ala
XM_006711806.2:c.12479A>C	XP_006711869.1:p.Glu4160Ala
XM_006711807.2:c.12455A>C	XP_006711870.1:p.Glu4152Ala
XM_006711808.2:c.12278A>C	XP_006711871.1:p.Glu4093Ala
XM_006711810.2:c.12422A>C	XP_006711873.1:p.Glu4141Ala
XM_006711802.3:c.12515A>C	XP_006711865.1:p.Glu4172Ala
XM_006711803.3:c.12512A>C	XP_006711866.1:p.Glu4171Ala
XM_006711804.3:c.12491A>C	XP_006711867.1:p.Glu4164Ala
XM_006711805.3:c.12485A>C	XP_006711868.1:p.Glu4162Ala
XM_006711806.3:c.12479A>C	XP_006711869.1:p.Glu4160Ala
XM_006711807.3:c.12455A>C	XP_006711870.1:p.Glu4152Ala
XM_006711808.3:c.12278A>C	XP_006711871.1:p.Glu4093Ala
XM_006711810.3:c.12422A>C	XP_006711873.1:p.Glu4141Ala
XM_017002028.1:c.12494A>C	XP_016857517.1:p.Glu4165Ala
NM_001035.3:c.12461A>C MANE Select	NP_001026.2:p.Glu4154Ala