Canonical Allele Identifier: CA345413673

Gene: RYR2

Linked Data

• dbSNP Id: rs762038111
• MyVariant Identifiers: chr1:g.237947592G>C (hg19) ; chr1:g.237784292G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237784292G>C , CM000663.2:g.237784292G>C	GRCh38
NC_000001.10:g.237947592G>C , CM000663.1:g.237947592G>C	GRCh37
NC_000001.9:g.236014215G>C	NCBI36
NG_008799.2:g.746891G>C
NG_008799.3:g.747109G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*3672G>C	ENSP00000499659.2:n.*3672G>C
ENST00000659194.3:c.12568G>C	ENSP00000499653.3:p.Glu4190Gln
ENST00000660292.2:c.12601G>C	ENSP00000499787.2:p.Glu4201Gln
ENST00000659194.2:c.4757G>C
ENST00000366574.7:c.12580G>C MANE Select	ENSP00000355533.2:p.Glu4194Gln
ENST00000659194.1:c.4757G>C
ENST00000660292.1:c.2633G>C
ENST00000360064.7:c.12532G>C	ENSP00000353174.7:p.Glu4178Gln
ENST00000366574.6:c.12580G>C	ENSP00000355533.2:p.Glu4194Gln
ENST00000609119.1:n.3775G>C
NM_001035.2:c.12580G>C	NP_001026.2:p.Glu4194Gln
XM_006711802.2:c.12634G>C	XP_006711865.1:p.Glu4212Gln
XM_006711803.2:c.12631G>C	XP_006711866.1:p.Glu4211Gln
XM_006711804.2:c.12610G>C	XP_006711867.1:p.Glu4204Gln
XM_006711805.2:c.12604G>C	XP_006711868.1:p.Glu4202Gln
XM_006711806.2:c.12598G>C	XP_006711869.1:p.Glu4200Gln
XM_006711807.2:c.12574G>C	XP_006711870.1:p.Glu4192Gln
XM_006711808.2:c.12397G>C	XP_006711871.1:p.Glu4133Gln
XM_006711810.2:c.12541G>C	XP_006711873.1:p.Glu4181Gln
XM_006711802.3:c.12634G>C	XP_006711865.1:p.Glu4212Gln
XM_006711803.3:c.12631G>C	XP_006711866.1:p.Glu4211Gln
XM_006711804.3:c.12610G>C	XP_006711867.1:p.Glu4204Gln
XM_006711805.3:c.12604G>C	XP_006711868.1:p.Glu4202Gln
XM_006711806.3:c.12598G>C	XP_006711869.1:p.Glu4200Gln
XM_006711807.3:c.12574G>C	XP_006711870.1:p.Glu4192Gln
XM_006711808.3:c.12397G>C	XP_006711871.1:p.Glu4133Gln
XM_006711810.3:c.12541G>C	XP_006711873.1:p.Glu4181Gln
XM_017002028.1:c.12613G>C	XP_016857517.1:p.Glu4205Gln
NM_001035.3:c.12580G>C MANE Select	NP_001026.2:p.Glu4194Gln