Canonical Allele Identifier: CA345413248

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237947448G>C (hg19) ; chr1:g.237784148G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784148G>C , CM000663.2:g.237784148G>C	GRCh38
NC_000001.10:g.237947448G>C , CM000663.1:g.237947448G>C	GRCh37
NC_000001.9:g.236014071G>C	NCBI36
NG_008799.2:g.746747G>C
NG_008799.3:g.746965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3528G>C	ENSP00000499659.2:n.*3528G>C
ENST00000659194.3:c.12424G>C	ENSP00000499653.3:p.Glu4142Gln
ENST00000660292.2:c.12457G>C	ENSP00000499787.2:p.Glu4153Gln
ENST00000659194.2:c.4613G>C
ENST00000366574.7:c.12436G>C MANE Select	ENSP00000355533.2:p.Glu4146Gln
ENST00000659194.1:c.4613G>C
ENST00000660292.1:c.2489G>C
ENST00000360064.7:c.12388G>C	ENSP00000353174.7:p.Glu4130Gln
ENST00000366574.6:c.12436G>C	ENSP00000355533.2:p.Glu4146Gln
ENST00000609119.1:n.3631G>C
NM_001035.2:c.12436G>C	NP_001026.2:p.Glu4146Gln
XM_006711802.2:c.12490G>C	XP_006711865.1:p.Glu4164Gln
XM_006711803.2:c.12487G>C	XP_006711866.1:p.Glu4163Gln
XM_006711804.2:c.12466G>C	XP_006711867.1:p.Glu4156Gln
XM_006711805.2:c.12460G>C	XP_006711868.1:p.Glu4154Gln
XM_006711806.2:c.12454G>C	XP_006711869.1:p.Glu4152Gln
XM_006711807.2:c.12430G>C	XP_006711870.1:p.Glu4144Gln
XM_006711808.2:c.12253G>C	XP_006711871.1:p.Glu4085Gln
XM_006711810.2:c.12397G>C	XP_006711873.1:p.Glu4133Gln
XM_006711802.3:c.12490G>C	XP_006711865.1:p.Glu4164Gln
XM_006711803.3:c.12487G>C	XP_006711866.1:p.Glu4163Gln
XM_006711804.3:c.12466G>C	XP_006711867.1:p.Glu4156Gln
XM_006711805.3:c.12460G>C	XP_006711868.1:p.Glu4154Gln
XM_006711806.3:c.12454G>C	XP_006711869.1:p.Glu4152Gln
XM_006711807.3:c.12430G>C	XP_006711870.1:p.Glu4144Gln
XM_006711808.3:c.12253G>C	XP_006711871.1:p.Glu4085Gln
XM_006711810.3:c.12397G>C	XP_006711873.1:p.Glu4133Gln
XM_017002028.1:c.12469G>C	XP_016857517.1:p.Glu4157Gln
NM_001035.3:c.12436G>C MANE Select	NP_001026.2:p.Glu4146Gln